67 research outputs found
Morphological resources for precise information retrieval
- Publication venue
- HAL CCSD
- Publication date
- 03/09/2012
- Field of study
International audienceQuestion answering (QA) systems aim at providing a precise answer to a given user question. Their major difficulty lies in the lexical gap problem between question and answering passages. We present here the different types of morphological phenomena in question answering, the resources available for French, and in particular a resource that we built containing deverbal agent nouns. Then, we evaluate the results of a particular QA system, according to the morphological knowledge used
Common variants in Alzheimerâs disease and risk stratification by polygenic risk scores
- Author
- Aarsland Dag
- Abdelnour Carla
- AlarcĂłn-MartĂn Emilio
- Alcolea Daniel
- Alegret Montserrat
- Alvarez Ignacio
- Anastasiou Anna
- Anastasiou Costas
- Andrade Victor
- Antonell Anna
- AntĂșnez Carmen
- Appollonio Ildebrando
- Arcaro Marina
- Archetti Silvana
- Arias Pastor Alfonso
- Armstrong Nicola J.
- Arosio Beatrice
- Bailly Henri
- Banaj Nerisa
- Baquero Miquel
- Belezhanska Diyana
- Bellenguez CĂ©line
- Benaque Alba
- Benussi Alberto
- Benussi Luisa
- Bernal SĂĄnchez-Arjona MarĂa
- Besse CĂ©line
- Bessi Valentina
- Binetti Giuliano
- Bis Joshua C.
- Bizzarro Alessandra
- Blesa Rafael
- Boerwinkle Eric
- Boland Anne
- Borroni Barbara
- Boschi Silvia
- BossĂč Paola
- Botne Sando Sigrid
- Buerger Katharina
- Buiza-Rueda Dolores
- Caffarra Paolo
- Calero Miguel
- Castaño Eduardo M.
- Cecchetti Roberta
- Cervera-Carles Laura
- Charbonnier Camille
- Chillotti Caterina
- Chipi Elena
- ChĂȘne GeneviĂšve
- Ciccone Simona
- Clark Christopher
- Conti Elisa
- contributors EADB
- CorbatĂłn-Anchuelo Arturo
- Corma-GĂłmez AnaĂŻs
- Costantini Emanuele
- Craig David
- Cuesta Carolina
- Custodero Carlo
- Daian Delphine
- Dalmasso Maria Carolina
- Daniele Antonio
- Dardiotis Efthimios
- de Mendonça Alexandre
- De Roeck Ellen
- de Rojas Itziar
- Deckert JĂŒrgen
- del Ser Teodoro
- Deniz-Naranjo M. Candida
- Deramecourt Vincent
- DeStefano Anita L.
- Dichgans Martin
- Diehl-Schmid Janine
- Diez-Fairen MĂłnica
- Dionigi Rossi Paolo
- Djurovic Srdjan
- Dufouil Carole
- Duron Emmanuelle
- DĂŒzel Emrah
- Engelborghs Sebastiaan
- Escott-Price Valentina
- Esiri Margaret
- Espinosa Ana
- Ewers Michael
- Farotti Lucia
- Farrer Lindsay A.
- Fenoglio Chiara
- FernĂĄndez-Fuertes Marta
- Ferrarese Carlo
- Ferrari Camilla
- Ferreira Catarina B.
- Ferri Evelyn
- Fin Bertrand
- Fischer Peter
- FlieĂbach Klaus
- Fornage Myriam
- Fortea Juan
- Fostinelli Silvia
- Franco-MacĂas Emilio
- Frank-GarcĂa Ana
- Frikke-Schmidt Ruth
- Froelich Lutz
- Galimberti Daniela
- GarcĂa-GonzĂĄlez Pablo
- GarcĂa-Madrona SebastiĂĄn
- Gelpi Ellen
- Ghidoni Roberta
- Giaccone Giorgio
- Giedraitis Vilmantas
- Giegling Ina
- Gil Silvia
- Goldhardt Oliver
- GonzĂĄlez-Perez Antonio
- Graff Caroline
- Grande Giulia
- Greco Antonio
- Grenier-Boley Benjamin
- Grimmer Timo
- GrĂŒnblatt Edna
- Haapasalo Annakaisa
- Hadjigeorgiou Georgios
- Haines Jonathan L.
- Hampel Harald
- Hanon Oliver
- Hartmann Annette M.
- Hausner Lucrezia
- Heilmann-Heimbach Stefanie
- Helisalmi Seppo
- Heneka Michael T.
- HernĂĄndez Isabel
- Herrmann Martin J.
- Hiltunen Mikko
- Hoffmann Per
- Holmans Peter A.
- Holmes Clive
- Hort Jakub
- Huerto Vilas Raquel
- Hulsman Marc
- HĂ€gg Sara
- Ikram M. Arfan
- Ingelsson Martin
- Ingino Carlos
- Janowitz Daniel
- Jansen Iris E.
- Jessen Frank
- Jian Xueqiu
- Joachim Catharine
- Johansson Charlotte
- JĂŒrgen Deckert
- Kalaria Rajesh N.
- Karlsson Ida K.
- Kern Silke
- Kilander Lena
- Kinhult StÄhlbom Anne
- Kivipelto Miia
- Kleineidam Luca
- Kohler Eduardo
- Koivisto Anne
- Kok Almar A. L.
- Kornhuber Johannes
- Kosmidis Mary H.
- Koutsouraki Effrosyni
- Kunkle Brian W.
- Kuulasmaa Teemu
- KĂŒĂ§ĂŒkali Fahri
- Lage Carmen
- Laske Christoph
- Lauria Alessandra
- Lebouvier Thibaud
- Lehtisalo Jenni
- Lemstra Afina W.
- Lerch Ondrej
- Löwenmark Malin
- MacLeod Catherine
- MacĂas Juan
- Maier Wolfgang
- Mangialasche Francesca
- Mangone Carlos
- Mann David M.
- Marianthi Arnaoutoglou
- Marshall Rachel
- MartĂn Montes Angel
- MartĂnez RodrĂguez Carmen
- MartĂnez Carmen
- MartĂnez-Larrad MarĂa Teresa
- Masullo Carlo
- Mayeux Richard
- McGuinness Bernadette
- Mead Simon
- Meggy Alun
- Mendoza Silvia
- Menéndez-Gonzålez Manuel
- Molina-Porcel Laura
- Montrreal Laura
- Moreno Fermin
- Moreno-Grau Sonia
- Morgan Kevin
- Muchnik Carolina
- Muñoz-Fernandez Carmen
- Nacmias Benedetta
- Naj Adam C.
- Neary David
- Ngandu Tiia
- Nicolas Gaël
- Nordestgaard BĂžrge G.
- Nöthen Markus M.
- Ortega Gemma
- Ortiz Cecilia
- Padovani Alessandro
- Palacio Dana Lis
- Papenberg Goran
- Parnetti Lucilla
- Pasquier Florence
- Pastor Ana Belén
- Pedersen Nancy L.
- Pericak-Vance Margaret A.
- Peters Oliver
- Pijnenburg Yolande A. L.
- Pineda Juan A.
- Pisanu Claudia
- Polak Thomas
- Politis Daniel G.
- Popp Julius
- PĂ©rez-CordĂłn Alba
- Quenez Olivier
- Quintela Inés
- Rainero Innocenzo
- Reyes Toso Carlos
- Reynolds Chandra A.
- Richardson Anna
- Riedel-Heller Steffi
- Riederer Peter
- Roberto Natalia
- Rodriguez-Rodriguez Eloy
- Rongve Arvid
- Rosas Allende Irene
- Rosende-Roca Maitée
- Rossi Giacomina
- Royo Jose LuĂs
- Rubino Elisa
- Rujescu Dan
- RĂĄbano Alberto
- Saenz Aldo
- Sakka Paraskevi
- Saltvedt Ingvild
- Sanabria Ăngela
- Sanchez-Garcia Florentino
- Satizabal Claudia L.
- Scamosci Michela
- Scarmeas Nikolaos
- Scarpini Elio
- Scherbaum Norbert
- Scherer Martin
- Schmid Matthias
- Schneider Anja
- Seidu Nazib M.
- SelbĂŠk Geir
- Seripa Davide
- Sims Rebecca
- Skoog Ingmar
- Skrobot Olivia Anna
- Sleegers Kristel
- Smith A. David
- Soininen Hilkka
- Solomon Alina
- Sorbi Sandro
- Sotolongo-Grau Oscar
- Spallazzi Marco
- Spalletta Gianfranco
- Spottke Annika
- Squassina Alessio
- Stringa Najada
- Tagliavini Fabrizio
- Tankard Rick M.
- Tesi Niccolo
- Thomassen Jesper Qvist
- Tremolizzo Lucio
- Tsolaki Magda
- TybjĂŠrg-Hansen Anne
- Ullgren Abbe
- Vacca Alessandro
- Valero Sergi
- Van Broeckhoven Christine
- Van Dongen Jasper
- van Schoor Natasja M.
- Vandenberghe Rik
- Vardy Emma R. L. C.
- Vidal Jean-Sebastien
- Vogelgsang Jonathan
- Vyhnalek Martin
- Wagner Michael
- Wallon David
- Wang Li-San
- Weinhold Leonie
- Wiltfang Jens
- Windle Gill
- Woods Bob
- Yang Qiong
- Yannakoulia Mary
- Zetterberg Henrik
- Zettergren Anna
- Zoia Chiara Paola
- Zulaica Miren
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2021
- Field of study
Funder: Funder: FundaciĂłn bancaria âLa Caixaâ Number: LCF/PR/PR16/51110003 Funder: Grifols SA Number: LCF/PR/PR16/51110003 Funder: European Union/EFPIA Innovative Medicines Initiative Joint Number: 115975 Funder: JPco-fuND FP-829-029 Number: 733051061Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. We first perform a large genetic association study by merging all available case-control datasets and by-proxy study results (discovery nâ=â409,435 and validation size nâ=â58,190). Here, we add six variants associated with Alzheimer's disease risk (near APP, CHRNE, PRKD3/NDUFAF7, PLCG2 and two exonic variants in the SHARPIN gene). Assessment of the polygenic risk score and stratifying by APOE reveal a 4 to 5.5 years difference in median age at onset of Alzheimer's disease patients in APOE É4 carriers. Because of this study, the underlying mechanisms of APP can be studied to refine the amyloid cascade and the polygenic risk score provides a tool to select individuals at high risk of Alzheimer's disease
New insights into the genetic etiology of Alzheimer's disease and related dementias
- Author
- Aarsland Dag
- Abdelnour Carla
- ADGC .
- Ahmad Shahzad
- AlarcĂłn-MartĂn Emilio
- Alcolea Daniel
- Alegret Montserrat
- Allende Irene Rosas
- Alvarez Ignacio
- Amin Najaf
- Amouyel Philippe
- Andrade Victor
- Andreassen Ole A
- AntĂșnez Carmen
- Appollonio Ildebrando
- Arcaro Marina
- Archetti Silvana
- Armstrong Nicola J
- Arosio Beatrice
- Athanasiu Lavinia
- Bailly Henri
- Banaj Nerisa
- Baquero Miquel
- Barral Sandra
- Beiser Alexa
- Bellenguez CĂ©line
- Below Jennifer E
- Benchek Penelope
- Benussi Luisa
- Berr Claudine
- Besse CĂ©line
- Bessi Valentina
- Biessels Geert Jan
- Binetti Giuliano
- Bis Joshua C
- Bizarro Alessandra
- Blesa Rafael
- Boada MercĂš
- Boerwinkle Eric
- Boland Anne
- Borroni Barbara
- Boschi Silvia
- BossĂč Paola
- Bresner Catherine
- Bressler Jan
- Brodaty Henry
- Broeckhoven Christine Van
- Brookes Keeley J
- Brusco Luis Ignacio
- BrÄthen Geir
- Buiza-Rueda Dolores
- Bullido MarĂa J
- Burholt Vanessa
- Bush William S
- Bûrger Katharina
- Calero Miguel
- Campos-Martin Rafael
- Cantwell Laura B
- Carracedo Ăngel
- Cecchetti Roberta
- Cervera-Carles Laura
- Chapuis Julien
- Charbonnier Camille
- CHARGE .
- Chen Hung-Hsin
- Chene GeneviĂšve
- Chillotti Caterina
- Chung Jaeyoon
- Ciccone Simona
- Claassen Jurgen AHR
- Clarimon Jordi
- Clark Christopher
- Conti Elisa
- Corma-GĂłmez AnaĂŻs
- Costa Marcos R
- Costantini Emanuele
- Cuccaro Michael L
- Custodero Carlo
- Daian Delphine
- Dalmasso Maria Carolina
- Damotte Vincent
- Daniele Antonio
- Dardiotis Efthimios
- Dartigues Jean-François
- de Deyn Peter Paul
- de Mendonça Alexandre
- de Munain Adolfo Lopez
- de Paiva Lopes Katia
- de Rojas Itziar
- de Witte Lot D
- Debette Stéphanie
- Deckert JĂŒrgen
- DEGESCO .
- Del Ser Teodoro
- Deleuze Jean-François
- Demgene .
- Denning Nicola
- DeStefano Anita
- Dichgans Martin
- Diehl-Schmid Janine
- Diez-Fairen MĂłnica
- Djurovic Srdjan
- Dongen Jasper Van
- Dufouil Carole
- Duron Emmanuelle
- DĂŒzel Emrah
- EADB .
- EADI .
- Eiriksdottir Gudny
- Engelborghs Sebastiaan
- Escott-Price Valentina
- Espinosa Ana
- Ewers Michael
- Faber Kelley M
- Fabrizio Tagliavini
- Fardo David W
- Farotti Lucia
- Farrer Lindsay A
- Fenoglio Chiara
- FernĂĄndez-Fuertes Marta
- Ferrari Raffaele
- Ferreira Catarina B
- Ferri Evelyn
- Fin Bertrand
- FinnGen .
- Fischer Peter
- Fladby Tormod
- FlieĂbach Klaus
- Fongang Bernard
- Fornage Myriam
- Foroud Tatiana M
- Fortea Juan
- Fostinelli Silvia
- Fox Nick C
- Franco-MacĂas Emlio
- Frank-GarcĂa Ana
- Frikke-Schmidt Ruth
- Froelich Lutz
- Fulton-Howard Brian
- Galimberti Daniela
- Garcia-Gonzalez Pablo
- Garcia-Madrona Sebastian
- Garcia-Ribas Guillermo
- GarcĂa-Alberca Jose Maria
- GarcĂa-GonzĂĄlez Pablo
- GERAD .
- Ghanbari Mohsen
- Ghidoni Roberta
- Giedraitis Vilmantas
- Giegling Ina
- Giorgio Giaccone
- Goate Alison M
- Goldhardt Oliver
- Gomez-Fonseca Duber
- GonzĂĄlez-PĂ©rez Antonio
- GR@ACE .
- Graff Caroline
- Grande Giulia
- Green Emma
- Grenier-Boley Benjamin
- Grimmer Timo
- Grunin Michelle
- GrĂŒnblatt Edna
- Gudnason Vilmundur
- Guetta-Baranes Tamar
- Haapasalo Annakaisa
- Hadjigeorgiou Georgios
- Haines Jonathan L
- Hamilton-Nelson Kara L
- Hampel Harald
- Hanon Olivier
- Hardy John
- Hartmann Annette M
- Harwood Janet
- Hausner Lucrezia
- Heilmann-Heimbach Stefanie
- Helisalmi Seppo
- Heneka Michael T
- HernĂĄndez Isabel
- Herrmann Martin J
- Hiltunen Mikko
- Hoffmann Per
- Holmans Peter A
- Holmes Clive
- Holstege Henne
- Hort Jakub
- Hulsman Marc
- Humphrey Jack
- Ikram M Arfan
- Ingelsson Martin
- Jansen Iris E
- Jessen Frank
- Jian Xueqiu
- Johansson Charlotte
- Juan Pascual SĂĄnchez
- Jun Gyungah R
- Kastumata Yuriko
- Kauwe John
- Kehoe Patrick G
- Kilander Lena
- Kivipelto Miia
- Kleineidam Luca
- Koivisto Anne
- Kornhuber Johannes
- Kosmidis Mary H
- Kuksa Pavel P
- Kukull Walter A
- Kunkle Brian W
- Kuulasmaa Teemu
- Kuzma Amanda B
- KĂŒĂ§ĂŒkali Fahri
- Lage Carmen
- Lambert Jean-Charles
- Laukka Erika J
- Launer Lenore
- Lauria Alessandra
- Lee Chien-Yueh
- Lehtisalo Jenni
- Lerch Ondrej
- LleĂł Alberto
- Longstreth William
- Lopez Oscar
- Love Seth
- Luckcuck Lauren
- Lunetta Kathryn L
- Löwemark Malin
- Ma Yiyi
- MacLeod Catherine A
- MacĂas Juan
- Maier Wolfgang
- Mangialasche Francesca
- Marquié Marta
- Marshall Rachel
- Martin Eden R
- Masullo Carlo
- Mather Karen
- Mayeux Richard
- Mead Simon
- Mecocci Patrizia
- Medina Miguel
- Meggy Alun
- Mehrabian Shima
- Mendoza Silvia
- Menéndez-Gonzålez Manuel
- Mir Pablo
- Moebus Susanne
- Mol Merel
- Molina-Porcel Laura
- Montes Angel MartĂn
- Montrreal Laura
- Morelli Laura
- Moreno Fermin
- Moreno-Grau Sonia
- Morgan Kevin
- Mosley Thomas
- Muchnik Carolina
- Mukherjee Shubhabrata
- Nacmias Benedetta
- Naj Adam C
- Ngandu Tiia
- Nicolas Gael
- Nielsen Sune Fallgaard
- Nordestgaard BĂžrge G
- Nöthen Markus M
- Olaso Robert
- Orellana Adelina
- Orsini Michela
- Ortega Gemma
- Padovani Alessandro
- Paolo Caffarra
- Papenberg Goran
- Parnetti Lucilla
- Pasquier Florence
- Pastor Alfonso Arias
- Pastor Ana Belén
- Pastor Pau
- Peloso Gina
- Pericak-Vance Margaret A
- Pericard Pierre
- Peters Oliver
- Pijnenburg Yolande AL
- Pineda Juan A
- Pisanu Claudia
- Piñol-Ripoll Gerard
- Polak Thomas
- Popp Julius
- Posthuma Danielle
- Priller Josef
- Prokic Ivana
- Psaty Bruce M
- Puerta Raquel
- PĂ©rez-CordĂłn Alba
- PĂ©rez-Tur Jordi
- Quenez Olivier
- Quintela Inés
- Rainero Innocenzo
- Raj Towfique
- Rajabli Farid
- Ramakers Inez
- Ramirez Alfredo
- Real Luis M
- Reinders Marcel JT
- Reitz Christiane
- Reyes-Dumeyer Dolly
- Ridge Perry
- Riedel-Heller Steffi
- Riederer Peter
- Roberto Natalia
- Rodriguez-Rodriguez Eloy
- RodrĂguez Carmen MartĂnez
- Rongve Arvid
- Rosende-Roca Maitée
- Rossi Giacomina
- Rossi Paolo Dionigi
- Royo Jose Luis
- Rubino Elisa
- Ruiz AgustĂn
- Rujescu Dan
- RĂĄbano Alberto
- Sachdev Perminder
- Sakka Paraskevi
- Saltvedt Ingvild
- Sanabria Ăngela
- Sanchez-Garcia Florentino
- Sando Sigrid B
- Sarnowski Chloé
- Satizabal Claudia L
- Scamosci Michela
- Scarmeas Nikolaos
- Scarpini Elio
- Schellenberg Gerard D
- Scheltens Philip
- Scherbaum Norbert
- Scherer Martin
- Schmid Matthias
- Schneider Anja
- Schott Jonathan M
- SelbĂŠk Geir
- Seripa Davide
- Serrano Manuel
- Seshadri Sudha
- Sha Jin
- Shadrin Alexey A
- Sims Rebecca
- Skrobot Olivia
- Sleegers Kristel
- Slifer Susan
- Snijders Gijsje JL
- Soininen Hilkka
- Solfrizzi Vincenzo
- Solomon Alina
- Song Yeunjoo
- Sorbi Sandro
- Sotolongo-Grau Oscar
- Spallazzi Marco
- Spalletta Gianfranco
- Spottke Annika
- Squassina Alessio
- Stordal Eystein
- StÄhlbom Anne Kinhult
- SĂĄez MarĂa Eugenia
- SĂĄnchez-Arjona MarĂa Bernal
- SĂĄnchez-Valle Raquel
- Tartan Juan Pablo
- TesĂ Niccolo
- Thalamuthu Anbupalam
- Thomas Tegos
- Thomassen Jesper Qvist
- Tosto Giuseppe
- Traykov Latchezar
- Tremolizzo Lucio
- Tsolaki Anthoula
- Tsolaki Magda
- TybjĂŠrg-Hansen Anne
- TĂĄrraga LluĂs
- Uitterlinden Andre
- Ullgren Abbe
- Ulstein Ingun
- Valero Sergi
- Valladares Otto
- van der Flier Wiesje M
- van der Lee Sven J
- van der Lugt Aad
- van Duijn Cornelia M
- van Rooij Jeroen
- van Swieten John
- Vance Jeffery
- Vandenberghe Rik
- Vardarajan Badri N
- Verhey Frans
- Vidal Jean-SĂ©bastien
- Vilas Raquel Huerto
- Vogelgsang Jonathan
- Vyhnalek Martin
- Wagner Michael
- Wallon David
- Wang Li-San
- Wang Ruiqi
- Weinhold Leonie
- Williams Julie
- Wiltfang Jens
- Windle Gill
- Woods Bob
- Yang Qiong
- Yannakoulia Mary
- Yaqub Amber
- Zare Habil
- Zhang Xiaoling
- Zhao Yi
- Zhu Congcong
- Zulaica Miren
- Ălvarez Victoria
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/04/2022
- Field of study
Characterization of the genetic landscape of Alzheimer's disease (AD) and related dementias (ADD) provides a unique opportunity for a better understanding of the associated pathophysiological processes. We performed a two-stage genome-wide association study totaling 111,326 clinically diagnosed/'proxy' AD cases and 677,663 controls. We found 75 risk loci, of which 42 were new at the time of analysis. Pathway enrichment analyses confirmed the involvement of amyloid/tau pathways and highlighted microglia implication. Gene prioritization in the new loci identified 31 genes that were suggestive of new genetically associated processes, including the tumor necrosis factor alpha pathway through the linear ubiquitin chain assembly complex. We also built a new genetic risk score associated with the risk of future AD/dementia or progression from mild cognitive impairment to AD/dementia. The improvement in prediction led to a 1.6- to 1.9-fold increase in AD risk from the lowest to the highest decile, in addition to effects of age and the APOE Δ4 allele
Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease
- Author
- Abner Erin
- Adams Hieab H
- Adams Perrie M.
- Aguilar Miquel
- Ahmad Shahzad
- Al-Chalabi Ammar
- Albert Marilyn S.
- Albin Roger L.
- Allen Mariet
- Alvarez Victoria
- Amin Najaf
- Amouyel Philippe
- Apostolova Liana G.
- Arcaro Marina
- Arnold Steven E.
- Aspelund Thor
- Asthana Sanjay
- Atwood Craig S.
- Bacq Delphine
- Badarinarayan Nandini
- Baldwin Clinton T.
- Barber Imelda S.
- Barber Robert C.
- Barnes Lisa L.
- Barral Sandra
- Beach Thomas G.
- Becker James T.
- Beecham Gary W.
- Beekly Duane
- Behrens Timothy W.
- Beiser Alexa S.
- Bellenguez CĂ©line
- Benito Yoland Aladro
- Bennett David A.
- Berr Claudine
- Bigio Eileen H.
- Bird Thomas D.
- Bis Joshua C.
- Blacker Deborah
- Blesa Rafael
- Boada Merce
- Boccardi Virginia
- Boerwinkle Eric
- Boeve Bradley F.
- Boland Anne
- Bonuccelli Ubaldo
- Bosco Paolo
- BossĂč Paola
- Bowen James D.
- Boxer Adam
- Braae Anne
- Braddel Amy
- Bras Jose
- Brayne Carol
- Brice Alexis
- Brody Jennifer A
- Brookes Keeley
- Brown Kristelle
- Brundin Rosemarie
- Bruni Amalia Cecilia
- Bullido MarĂa J.
- Burgess Jeremy D.
- Burke James R.
- Burns Jeffrey M.
- Buxbaum Joseph D.
- Caffarra Paolo
- Cairns Nigel J.
- Caltagirone Carlo
- Campion Dominique
- Cantwell Laura B.
- Cao Chuanhai
- Carlson Chris S.
- Carlsson Cynthia M.
- Carney Regina M.
- Carrasquillo Minerva M.
- Carrell David
- Carroll Steven L.
- Cecchetti Roberta
- Chakrabarty Paramita
- Chapman Jade
- Chen Yuning
- Choi Seung-Hoan
- Chouraki Vincent
- Chui Helena C.
- Ciaramella Antonio
- ClarimĂłn Jordi
- Clark David G.
- Collinge John
- Combarros Onofre
- Concari Letizia
- Corcoran Chris
- Coto Eliecer
- Craig David
- Crane Paul K.
- Cribbs David H.
- Crocco Elizabeth A.
- Cruchaga Carlos
- Cupidi Chiara
- Cupples L Adrienne
- Daniele Antonio
- Daniilidou Makrina
- Dartigues Jean-François
- De Deyn Peter P.
- De Jager Philip L
- Decarli Charles
- Deleuze Jean-François
- Denning Nicola
- Derbois CĂ©line
- Dermecourt Vincent
- Destefano Anita L.
- Diaz Carolina Ceballos
- Dichgans Martin
- Dick Malcolm
- Dickson Dennis W
- Dombroski Beth
- Doody Rachelle S.
- Duara Ranjan
- Dubois Bruno
- Dufouil Carole
- Dulary CĂ©cile
- Dunstan Melanie
- Dupuis Josée
- Eiriksdottir Gudny
- Emilsson Valur
- Engelborghs Sebastien
- Epelbaum Jacques
- Ertekin-Taner Nilufer
- Escott-Price Valentina
- Evans Denis A.
- Faber Kelley M.
- Fairchild Thomas J.
- FairĂ©n MĂČnica DĂez
- Fallon Kenneth B.
- Fardo David W.
- Farlow Martin R.
- Farrer Lindsay A.
- Fenoglio Chiara
- Fernadez Carmen Muñoz
- Ferris Steven
- Fievet Nathalie
- Fitzpatrick Annette L.
- Fornage Myriam
- Foroud Tatiana M.
- Forsell Charlotte
- Forstner Andreas J.
- Fortea Juan
- Fox Nick C.
- Frank-GarcĂa Ana
- Fratiglioni Laura
- Frosch Matthew P.
- Funk Cory C.
- Galasko Douglas R.
- Galimberti Daniela
- Gallo Maura
- Garcia Florentino Sanchez
- Garcia Melissa E.
- Garzia Fabienne
- Gearing Marla
- Gerrish Amy
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- Wu Chuang-Kuo
- Yang Qiong
- Younkin Steven G.
- Yu Chang-En
- Yu Lei
- Zhao Yi
- Publication venue
- Publication date
- 01/01/2017
- Field of study
We identified rare coding variants associated with Alzheimerâs disease (AD) in a 3-stage case-control study of 85,133 subjects. In stage 1, 34,174 samples were genotyped using a whole-exome microarray. In stage 2, we tested associated variants (P<1Ă10-4) in 35,962 independent samples using de novo genotyping and imputed genotypes. In stage 3, an additional 14,997 samples were used to test the most significant stage 2 associations (P<5Ă10-8) using imputed genotypes. We observed 3 novel genome-wide significant (GWS) AD associated non-synonymous variants; a protective variant in PLCG2 (rs72824905/p.P522R, P=5.38Ă10-10, OR=0.68, MAFcases=0.0059, MAFcontrols=0.0093), a risk variant in ABI3 (rs616338/p.S209F, P=4.56Ă10-10, OR=1.43, MAFcases=0.011, MAFcontrols=0.008), and a novel GWS variant in TREM2 (rs143332484/p.R62H, P=1.55Ă10-14, OR=1.67, MAFcases=0.0143, MAFcontrols=0.0089), a known AD susceptibility gene. These protein-coding changes are in genes highly expressed in microglia and highlight an immune-related protein-protein interaction network enriched for previously identified AD risk genes. These genetic findings provide additional evidence that the microglia-mediated innate immune response contributes directly to AD development
The James Webb Space Telescope Mission
- Author
- Abbott Randy
- Abell James S.
- Abernathy Mark
- Abney Faith E.
- Abraham John G.
- Abraham Roberto
- Abul-Huda Yasin M.
- Acton Scott
- Adams Cynthia K.
- Adams Evan
- Adler David S.
- Adriaensen Maarten
- Aguilar Jonathan Albert
- Ahmed Mansoor
- Ahmed Nasif S.
- Ahmed Tanjira
- Alarcon Rafael Ramos
- Albat RĂŒdeger
- Albert LoĂŻc
- Alberts Stacey
- Aldridge David
- Allen Mary Marsha
- Allen Shaune S.
- Altenburg Martin
- Altunc Serhat
- Alvarez Jose Lorenzo
- Ambrose Leslie L.
- Anandakrishnan Satya M.
- Andersen Gregory C.
- Anderson Harry James
- Anderson Jay
- Anderson Kristen
- Anderson Sara M.
- Aprea Julio
- Archer Benita J.
- Arenberg Jonathan W.
- Argyriou Ioannis
- Arribas Santiago
- Artigau Ătienne
- Arvai Amanda Rose
- Atcheson Paul
- Atkinson Charles B.
- Averbukh Jesse
- Aymergen Cagatay
- Bacinski John J.
- Baggett Wayne E.
- Bagnasco Giorgio
- Baker Lynn L.
- Balzano Vicki Ann
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- Perrygo Chuck
- Peslier Muriel
- Petach Michael
- Peterson Karla A.
- Peña-Guerrero Maria
- Pfarr Tom
- Pierson James M.
- Pietraszkiewicz Martin
- Pilchen Guy
- Pipher Judy L.
- Pirzkal Norbert
- Pitman Joseph T.
- Plate Maurice te
- Player Danielle M.
- Plesha Rachel
- Plitzke Anja
- Pohner John A.
- Poletis Karyn Konstantin
- Pollizzi Joseph A.
- Polster Ethan
- Pontius James T.
- Pontoppidan Klaus
- Porges Susana C.
- Potter Gregg D.
- Prescott Stephen
- Proffitt Charles R.
- Pueyo Laurent
- Radich Armando
- Rager Reiko T.
- Rameau Julien
- Ramey Deborah D.
- Rampini Riccardo
- Rapp Robert
- Rashford Robert A.
- Rauscher Bernard J.
- Ravindranath Swara
- Rawle Timothy
- Rawlings Tynika N.
- Ray Tom
- Regan Michael W.
- Rehm Brian
- Rehm Kenneth D.
- Reid Neill
- Reis Alain Conde
- Reis Carl A.
- Renk Florian
- Reoch Tom B.
- Ressler Michael
- Rest Armin W.
- Reynolds Paul J.
- Richon Joel G.
- Richon Karen V.
- Ridgaway Michael
- Riedel Adric Richard
- Rieke George H.
- Rieke Marcia
- Rifelli Richard E.
- Rigby Jane R.
- Riggs Catherine S.
- Ringel Nancy J.
- Ritchie Christine E.
- Rix Hans-Walter
- Robberto Massimo
- Robinson Michael S.
- Robinson Orion
- Rock Frank W.
- Rodriguez David R.
- Roellig Thomas
- Rohrbach Scott O.
- Roman Anthony J.
- Romelfanger Frederick J.
- Romo Jr. Felipe P.
- Rosales Jose J.
- Rose Perry
- Roteliuk Anthony F.
- Roth Marc N.
- Rothwell Braden Quinn
- Rouzaud Sylvain
- Rowe Jason
- Rowlands Neil
- Roy Arpita
- Royer Pierre
- Rui Chunlei
- Rumler Peter
- Rumpl William
- Russ Melissa L.
- Ryan Michael B.
- Ryan Richard M.
- Saad Karl
- Sabata Modhumita
- Sabatino Rick
- Sabbi Elena
- Sabelhaus Phillip A.
- Sabia Stephen
- Sahu Kailash C.
- Saif Babak N.
- Salvignol Jean-Christophe
- Samara-Ratna Piyal
- Samuelson Bridget S.
- Sanders Felicia A.
- Santos Tony Dos
- Sappington Bradley
- Sargent B. A.
- Sauer Arne
- Savadkin Bruce J.
- Sawicki Marcin
- Schappell Tina M.
- Scheffer Caroline
- Scheithauer Silvia
- Scherer Ron
- Schiff Conrad
- Schlawin Everett
- Schmeitzky Olivier
- Schmitz Tyler S.
- Schmude Donald J.
- Schneider Analyn
- Schreiber JĂŒrgen
- Schroeven-Deceuninck Hilde
- Schultz John J.
- Schwab Ryan
- Schwartz Curtis H.
- Scoccimarro Dario
- Scott John F.
- Scott Michelle B.
- Seaton Bonita L.
- Seely Bruce S.
- Seery Bernard
- Seidleck Mark
- Sembach Kenneth
- Shanahan Clare Elizabeth
- Shaughnessy Bryan
- Shaw Richard A.
- Shay Christopher Michael
- Sheehan Even
- Sheth Kartik
- Shih Hsin-Yi
- Shivaei Irene
- Siegel Noah
- Sienkiewicz Matthew G.
- Simmons Debra D.
- Simon Bernard P.
- Sirianni Marco
- Sivaramakrishnan Anand
- Slade Jeffrey E.
- Sloan G. C.
- Slocum Christine E.
- Slowinski Steven E.
- Smith Corbett T.
- Smith Eric P.
- Smith Erin C.
- Smith Koby
- Smith Robert
- Smith Stephanie J.
- Smolik John L.
- Soderblom David R.
- Sohn Sangmo Tony
- Sokol Jeff
- Sonneborn George
- Sontag Christopher D.
- Sooy Peter R.
- Soummer Remi
- Southwood Dana M.
- Spain Kay
- Sparmo Joseph
- Speer David T.
- Spencer Richard
- Sprofera Joseph D.
- Stallcup Scott S.
- Stanley Marcia K.
- Stansberry John A.
- Stark Christopher C.
- Starr Carl W.
- Stassi Diane Y.
- Steck Jane A.
- Steeley Christine D.
- Stephens Matthew A.
- Stephenson Ralph J.
- Stewart Alphonso C.
- Stiavelli Massimo
- Stockman Jr. Hervey
- Strada Paolo
- Straughn Amber N.
- Streetman Scott
- Strickland David Kendal
- Strobele Jingping F.
- Stuhlinger Martin
- Stys Jeffrey Edward
- Such Miguel
- Sukhatme Kalyani
- Sullivan Joseph F.
- Sullivan Pamela C.
- Sumner Sandra M.
- Sun Fengwu
- Sunnquist Benjamin Dale
- Swade Daryl Allen
- Swam Michael S.
- Swenton Diane F.
- Swoish Robby A.
- Tamas Laszlo
- Tao Andrew
- Taylor David K.
- Taylor Joanna M.
- Teague Kelly K.
- Telfer Randal C.
- Temim Tea
- Texter Scott C.
- Thatte Deepashri G.
- Thompson Christopher Lee
- Thompson Linda M.
- Thomson Shaun R.
- Thronson Harley
- Tierney C. M.
- Tikkanen Tuomo
- Tinnin Lee
- Tippet William Thomas
- Todd Connor William
- Tran Hien D.
- Trauger John
- Trejo Edwin Gregorio
- Truong Justin Hoang Vinh
- Tsukamoto Christine L.
- Tufail Yasir
- Tumlinson Jason
- Tustain Samuel
- Tyra Harrison
- Ubeda Leonardo
- Underwood Kelli
- Uzzo Michael A.
- Vaclavik Steven
- Valenduc Frida
- Valenti Jeff A.
- Van Campen Julie
- van de Wetering Inge
- Van Der Marel Roeland P.
- van Dishoeck Ewine F.
- van Haarlem Remy
- Van Tea Mason
- Vandenbussche Bart
- Vanterpool Dona D.
- Vernoy Michael R.
- Volk Kevin
- Voorzaat Piet
- Voyton Mark F.
- Vydra Ekaterina
- Waddy Darryl J.
- Waelkens Christoffel
- Wahlgren Glenn Michael
- Walker Jr. Frederick E.
- Wander Michel
- Warfield Christine K.
- Warner Gerald
- Wasiak Francis C.
- Wasiak Matthew F.
- Wehner James
- Weiler Kevin R.
- Weilert Mark
- Weiss Stanley B.
- Wells Martyn
- Welty Alan D.
- Wheate Lauren
- Wheeler Thomas P.
- White Christy L.
- Whitehouse Paul
- Whiteleather Jennifer Margaret
- Whitman William Russell
- Williams Christina C.
- Willmer Christopher N. A.
- Willott Chris J.
- Willoughby Scott P.
- Wilson Andrew
- Wilson Debra
- Wilson Donna V.
- Windhorst Rogier
- Wislowski Emily Christine
- Wolfe David J.
- Wolfe Michael A.
- Wolff Schuyler
- Wondel Amancio
- Woo Cindy
- Woods Robert T.
- Worden Elaine
- Workman William
- Wright Gillian S.
- Wu Carl
- Wu Chi-Rai
- Wun Dakin D.
- Wymer Kristen B.
- Yadetie Thomas
- Yan Isabelle C.
- Yang Keith C.
- Yates Kayla L.
- Yeager Christopher R.
- Yerger Ethan John
- Young Erick T.
- Young Gary
- Yu Gene
- Yu Susan
- Zak Dean S.
- Zeidler Peter
- Zepp Robert
- Zhou Julia
- Zincke Christian A.
- Zonak Stephanie
- Zondag Elisabeth
- Ălvarez-MĂĄrquez Javier
- Ăstlin Göran
- Publication venue
- Publication date
- 10/04/2023
- Field of study
Twenty-six years ago a small committee report, building on earlier studies,
expounded a compelling and poetic vision for the future of astronomy, calling
for an infrared-optimized space telescope with an aperture of at least 4m.
With the support of their governments in the US, Europe, and Canada, 20,000
people realized that vision as the 6.5m James Webb Space Telescope. A
generation of astronomers will celebrate their accomplishments for the life of
the mission, potentially as long as 20 years, and beyond. This report and the
scientific discoveries that follow are extended thank-you notes to the 20,000
team members. The telescope is working perfectly, with much better image
quality than expected. In this and accompanying papers, we give a brief
history, describe the observatory, outline its objectives and current observing
program, and discuss the inventions and people who made it possible. We cite
detailed reports on the design and the measured performance on orbit.Comment: Accepted by PASP for the special issue on The James Webb Space
Telescope Overview, 29 pages, 4 figure
Drosophila Cyclin G and epigenetic maintenance of gene expression during development
- Author
- A Chatr-Aryamontri
- A Coléno-Costes
- A Dey
- A GaytĂĄn De Ayala Alonso
- AM Pattatucci
- B Schuettengruber
- B Schuettengruber
- B Schuettengruber
- BE Bernstein
- BH Dietrich
- C Beisel
- C Grimaud
- Camille A Dupont
- CL Fisher
- CL Fisher
- D Beuchle
- D LaJeunesse
- DA Bennin
- DA Sinclair
- DA Sinclair
- Delphine Dardalhon-Cuménal
- DJ Grau
- DR Marenda
- DY Takeda
- E Lecona
- E Mouchel-Vielh
- EB Lewis
- F Bienvenu
- F Faradji
- F Faradji
- Frédérique Peronnet
- G Struhl
- H Kwak
- HA Baskind
- HI Baymaz
- Hugh W Brock
- J DĂ©jardin
- J Garriga
- J Salvaing
- J Salvaing
- J Salvaing
- J Salvaing
- J Simon
- JA Kennison
- JA Kennison
- JA Kennison
- JC Scheuermann
- JC Scheuermann
- JJ Gildea
- JK Stock
- JR Bateman
- JW Voncken
- K Okamoto
- L Croce Di
- L Mohrmann
- M Heidemann
- M Kumafuji
- M Kyba
- M Napoles De
- MC Horne
- Michael Kyba
- ML Smith
- ML Smith
- MO Fauvarque
- MT Knuesel
- N Berger
- N Loncle
- NB Randsholt
- Neel B Randsholt
- P Ingham
- P SantamarĂa
- Q Zhou
- RA White
- RC Conaway
- RJ Weatheritt
- S Beck
- S Egloff
- S Lim
- S SaebĂže-Larssen
- SC Wu
- SE St Pierre
- SH Kimura
- SJ Marygold
- ST Smith
- T Murali
- TA Milne
- W Yuan
- Y Tanaka
- Y Yamamoto
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
- Author
- Abbott Kristin M.
- Alexander Elizabeth
- Allamand Valérie
- Aretz Stefan
- Atalaia Antonio
- Baets Jonathan
- Balestrini Simona
- Balicza Peter
- Banfi Sandro
- Banka Siddharth
- BaĆak AyĆe Nazlı
- Beeson David
- Beijer Danique
- Beltran Sergi
- Benetti Elisa
- Bettolo Chiara Marini
- Bigoni Stefania
- Bijlsma Emilia K.
- Bonne GisĂšle
- Bourbouli Mara
- Boztug Kaan
- Brookes Anthony J.
- Bros-Facer Virginie
- Bruel Ange-Line
- Brunner Han
- Bullich Gemma
- Cali Elisa
- Capella Gabriel
- Carneiro FĂĄtima
- Carpancea Evelina
- Cazurro-Gutiérrez Ana
- Chahdil Maroua
- Chinnery Patrick F.
- Cilio Maria-Roberta
- Ciolfi Andrea
- Claeys Kristl
- Clayton-Smith Jill
- Coarelli Giulia
- Cohen Enzo
- Colobran Roger
- consortium Solve-R. D.
- Cordts Isabelle
- Corominas Galbany Jordi
- Corvo Alberto
- Cossins Judith
- Costa Alessia
- Dallapiccola Bruno
- Danis Daniel
- Davoine Claire-Sophie
- de Benito Daniel Natera
- de Boer Elke
- de Jonghe Peter
- De la Paz Manuel Posada
- de la Rosa F. Javier Alonso GarcĂa
- De Ridder Willem
- de Sainte Agathe Jean-Madeleine
- de Voer Richarda M.
- de Vries Geert
- De Winter Jonathan
- Delgado Beatriz MartĂnez
- Demidov German
- Denommé-Pichon Anne-Sophie
- Depienne Christel
- Depondt Chantal
- Dermaut Bart
- Deschauer Marcus
- Dizjikan Farid Yavari
- DoleĆŸalovĂĄ Pavla
- Drunat SĂ©verine
- Duerinckx Sarah
- Duffourd Yannis
- Durr Alexandra
- Efthymiou Stephanie
- Ellwanger Kornelia
- Engelhardt Karin
- Evangeliou Athanasios
- Evangelista Teresinha
- Eymard Bruno
- Faivre Laurence
- Fallerini Chiara
- Ferlini Alessandra
- Fernandes Susana
- Fernandez-Callejo Marcos
- Ferreira Marta
- Ferreira Pedro
- FrankovĂĄ Vera
- Frederikse Wilhemina Skerstjens
- Freeberg Mallory
- Furini Simone
- Gao Fei
- Garrido Luzia
- Gibson Spencer
- Gilissen Christian
- Gilissen Christian
- Graessner Holm
- Grimbacher Bodo
- Gualandi Francesca
- Guerrini Renzo
- Guillot-Noel LĂ©na
- Gullo Irene
- Gumus Gulcin
- Gut Ivo Glynne
- Haack Tobias B.
- Hackman Peter
- Haimel Matthias
- Hambleton Sophie
- Hampstead Juliet
- Hanauer Marc
- Hanna Mike
- Havlovicovå Markéta
- Heinzmann Anna
- Hemelsoet Dimitri
- Hengel Holger
- HernĂĄndez Carles
- Heron Delphine
- Herzog Rebecca
- Heutink Peter
- Hoen Peter A. C. T
- Hoffer Mariette J. V.
- Hofste Tom
- Hoischen Alexander
- Hoischen Alexander
- Holinski-Feder Elke
- Hongnat Oscar
- Hoogerbrugge Nicoline
- Horvath Rita
- Houlden Henry
- Iacomino Michele
- Jackson Adam
- Janssen Erik
- Jarava Clara Franco
- Johansson Lennart
- Johari Mridul
- José Celina São
- Kamsteeg Erik-Jan
- Kapaki Elisabeth
- Keane Thomas
- Kegele Josua
- Keren Boris
- Kessler Christoph
- Kleefstra Tjitske
- Kokosali Evgenia
- KremlikovĂĄ Radka PourovĂĄ
- Kucuk Erdi
- Köhler Sebastian
- Lacombe Didier
- Lagorce David
- Lambros Mathioudakis
- Laner Andreas
- Laurie Steven
- Lebreton Emeline
- Lederer Damien
- Lerche Holger
- LiĆĄkovĂĄ Petra
- LochmĂŒller Hanns
- LochmĂŒller Hanns
- Lohmann Katja
- Macaya Alfons
- Macek Milan
- Maddi Vatsalya
- Magrinelli Francesca
- Manera Jordi Diaz
- Marcé-Grau Anna
- MartĂn Estrella LĂłpez
- Mary Sandrine
- MasĂł Laura Batlle
- Matalonga Leslie
- Matos Ana Rita
- Maver Ales
- May Patrick
- Maystadt Isabelle
- Mehtarizadeh Mehdi
- Mei Davide
- Metay Corinne
- Metcalfe Alison
- Mignot Cyril
- Molnar Maria Judit
- Morleo Manuela
- Morsy Heba
- Munell Francina
- Muntoni Francesco
- Musacchia Francesco
- Mutarelli Margherita
- MĂŒnchau Alexander
- Neerincx Pieter B.
- Nelen Marcel
- Nelson Isabelle
- Neri Marcella
- Nigro Vincenzo
- Oliveira Carla
- Osorio Andrés Nascimento
- Ossowski Stephan
- Papakonstantinou Anastasios
- Paramonov Ida
- Parkinson Helen
- Patch Christine
- Pauly Martje
- Pelaez Jose Garcia
- Peterlin Borut
- Peters Sophia
- Peyron Christine
- Pfundt Rolph
- PicĂł Daniel
- Piluso Giulio
- Pinelli Michele
- Piscia Davide
- Pizzi Simone
- Polavarapu Kiran
- Poppe Bruce
- PĂ©lissier Aurore
- Pérez-Dueñas Belén
- Radio Francesca Clementina
- Rath Ana
- Ratnaike Thiloka
- Reilly Mary
- Renieri Alessandra
- Riaz Umar
- Riess Olaf
- Rinne Tuula
- Riva Antonella
- Robert Glenn
- Robinson Peter
- Roelofs-Prins Dieuwke
- Rohrer Jonathan
- Rooryck Caroline
- Roos Andreas
- Rossi Rachele
- Ruivenkamp Claudia A. L.
- Rump Andreas
- Ruvolo David
- Sablauskas Karolis
- Santen Gijs W. E.
- Sarkozy Anna
- Savarese Marco
- Scala Marcello
- Scheffer Hans
- Schon Katherine
- Schröck Evelin
- Schuermans Nika
- Schulze-Hentrich Julia M.
- Schöls Ludger
- SchĂŒle Rebecca
- Scudieri Paolo
- Selvatici Rita
- Shorter Thomas
- Sisodiya Sanjay M.
- Sommer Anna Katharina
- Spalding Dylan
- Spier Isabel
- Spilioti Martha
- Steehouwer Marloes
- Steinke-Lange Verena
- Stevanin Giovanni
- Steyaert Wouter
- Stojkovic Tanya
- Straub Volker
- Striano Pasquale
- Sturm Marc
- Swertz Morris A.
- Synofzik Matthis
- Sznajer Yves
- SĂĄnchez Eva Bermejo
- Tartaglia Marco
- te Paske Iris
- Thauvin Christel
- Thomas Coline
- ThomasovĂĄ Dana
- Thompson Rachel
- Timmerman Vincent
- Torella Annalaura
- TraschĂŒtz Andreas
- Trimouille Aurelien
- Turnovec Marek
- Töpf Ana
- Udd Bjarne
- Uva Paolo
- Valle Laura
- Van de Vondel Liedewei
- van de Warrenburg Bart
- van der Velde Joeri K.
- van der Vries Gerben
- van Gijn Marielle
- van Os Nienke
- Vandrovcova Jana
- Varavallo Alessandra
- Veal Colin
- Verdin Hannah
- Verloes Alain
- Vetro Annalisa
- Vissers Lisenka E. L. M.
- Vitobello Antonio
- Warren Greg
- Wayand Melanie
- Weckhuysen Sarah
- Wilke Carlo
- Xu Jishu
- Yaldiz Burcu
- Yaldiz Burcu
- Yaou Rabah Ben
- Yntema Helger G.
- Zaganas Ioannis
- Zaharieva Irina
- Zara Federico
- Zonneveld-Huijssoon Eveline
- Zurek Birte
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2023
- Field of study
Background Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single-nucleotide (SNVs) and copy number variants (CNVs). Here we compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques. Results We compared three different widely used enrichment kits (Agilent SureSelect Human All Exon V5, Agilent SureSelect Human All Exon V7 and Twist Bioscience) as well as short-read and long-read WGS. We show that the Twist exome capture significantly improves complete coverage and coverage uniformity across coding regions compared to other exome capture kits. Twist performance is comparable to that of both short- and long-read whole genome sequencing. Additionally, we show that even at a reduced average coverage of 70à there is only minimal loss in sensitivity for SNV and CNV detection. Conclusion We conclude that exome sequencing with Twist represents a significant improvement and could be performed at lower sequence coverage compared to other exome capture techniques
Multiancestry analysis of the HLA locus in Alzheimerâs and Parkinsonâs diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes
- Author
- Aarsland Dag
- Aarsland Dag
- Abdelnour Carla
- Abraham Richard
- Abraham Richard
- Adarmes-GĂłmez A.D.
- Adarmes-GĂłmez Ad
- Aguilera N.
- Aguilera Nuria
- Ahmad Shahzad
- Al-Chalabi Ammar
- Al-Chalabi Ammar
- Alarcon E.
- AlarcĂłn-MartĂn E.
- AlarcĂłn-MartĂn Emilio
- Alcolea Daniel
- Alegret M.
- Alegret Montserrat
- Alonso M.D.
- Alvarez Ignacio
- Alvarez Victoria
- Ambati Aditya
- Amer-Ferrer G.
- Amin Najaf
- Amouyel Philippe
- Amouyel Philippe
- Amouyel Phillippe
- Anastasiou Anna
- Anastasiou Costas
- Andrade Victor
- Andreassen Ole A.
- Andreassen Ole A.
- Andreassen Ole A.
- Andreoni Simona
- Annuar Azlina Ahmad
- Antequera M.
- Anthoula Tsolaki
- Antikainen Riitta
- Antonell Anna
- AntĂșnez C.
- Appollonio Ildebrando
- Arcaro Marina
- Archetti Silvana
- Arfan Ikram M.
- Arias Pastor Alfonso
- Ariel Prestia Federico
- Armstrong Nicola J.
- Arosio Beatrice
- Arosio Beatrice
- Assogna Francesca
- Athanasiu Lavinia
- Athanasiu Lavinia
- Au Wing-Lok
- Bahrami Shahram
- Bailly Henri
- Banaj Nerisa
- Baquero M.
- Baquero Miquel
- Bass Nicholas J.
- Bass Nick
- Bastiani Patrizia
- Bayer Anthony
- Becker Tim
- Belezhanska Diyana
- Bellenguez CĂ©line
- Bellenguez CĂ©line
- Bellenguez CĂ©line
- Belloy Michael E.
- Belén Pastor Ana
- Ben-Shlomo Yoav
- Benussi Alberto
- Benussi Luisa
- Benussi Luisa
- Bergh Sverre
- Bernal M.
- Bernardo-Harrington Mateus
- Berr Claudine
- Berr Claudine
- Besse CĂ©line
- Bessi Valentina
- Binetti Giuliano
- Bizarro Alessandra
- Bjerke Maria
- Blennow Kaj
- Blesa R.
- Blesa Rafael
- Boada M.
- Boada M.
- Boada MercĂš
- Boada MercĂš
- Boecker Henning
- Boland Anne
- Boland Anne
- Borroni Barbara
- Borroni Barbara
- Boschi Silvia
- Bosnes Ingunn
- BossĂč Paola
- Brayne Carol
- Brayne Carol
- Bresner Catherine
- Brice Alexis
- Brodaty Henry
- Brookes Keeley J.
- Brown Kristelle
- Brown Kristelle S.
- BrÄthen Geir
- BrÄthen Geir
- Buendia M.
- Buendia Mar
- Buiza-Rueda D.
- Buiza-Rueda Dolores
- Bullido M.J.
- Bullido MarĂa J.
- Bullido MarĂa J.
- Burguera J.A.
- Burholt Vanessa
- BĂrger Katharina
- Caffarra Paolo
- Calero M.
- Calero Miguel
- campion Dominique
- Campos-Martin Rafael
- Cano A.
- Carracedo A.
- Carracedo Ăngel
- Carrillo F.
- Carrillo F.
- Carrion-Claro M.
- CarriĂłn-Claro M.
- Casajeros M.J.
- Castaño Eduardo M.
- Castillo Morales Atahualpa
- Cañabate P.
- Cañabate Pilar
- Cecchetti Roberta
- Cervera-Carles Laura
- Chan Anne Y.Y.
- Chao Yinxia
- Chapuis Julien
- Charbonnier Camille
- Chen Ling
- Chen Yongping
- Chene GeneviĂšve
- Chew Elaine Guo Yan
- Chillotti Caterina
- Chipi Elena
- Chung Sun Ju
- Ciccone Simona
- Ciullo Valentina
- Claassen Jurgen A.H.R.
- Clarimon Jordi
- Clarimon Jordi
- Clarimon Jordi
- ClarimĂłn J.
- Clark Christopher
- Clarke Robert
- Collinge John
- Collinge John
- Conti Elisa
- CorbatĂłn-Anchuelo A.
- Cores Valeria
- Corma-GĂłmez AnaĂŻs
- Costa Marcos R
- Costantini Emanuele
- Craig David
- Craig David
- Cruz-Gamero J.M.
- Cuesta Carolina
- Custodero Carlo
- Daian Delphine
- Dalmasso Maria Carolina
- Damotte Vincent
- Damotte Vincent
- Daniele Antonio
- Daniele Antonio
- Dardiotis Efthimios
- Darling Daniel
- Dartigues Jean-Francois
- Dartigues Jean-François
- David Smith A.
- David Smith A.
- Davies Chloe
- de Deyn Peter Paul
- de Mendonça Alexandre
- de Mendonça Alexandre
- de Munain Adolfo Lopez
- de Pancorbo M.M.
- De Roeck Ellen
- de Rojas I.
- de Rojas I.
- de Rojas Itziar
- de Rojas Itziar
- Debette Stéphanie
- Debette Stéphanie
- Deckert JĂŒrgen
- del Ser T.
- del Ser Teodoro
- Del Zompo Maria
- Deleuze Jean-François
- Deleuze Jean-François
- Deloukas Panagiotis
- Deloukas Pangiotis
- den Bussche Hendrik
- Denning Nicola
- Denning Nicola
- Deramecourt Vincent
- Dermecourt Vincent
- Dichgans Martin
- Dichgans Martin
- Dichgans Martin
- Diego S.
- Diego Susana
- Diehl-Schmid Janine
- Diez-Fairen M.
- Diez-Fairen MĂłnica
- Dionigi Rossi Paolo
- Djurovic Srdjan
- Djurovic Srdjan
- Dolores Alonso MarĂa
- Dowzell Kimberley
- Drichel Dmitriy
- Dubois Bruno
- Dufouil Carole
- Dufouil Carole
- Dufouil Carole
- During Emmanuel
- Duron Emmanuelle
- DĂŒzel Emrah
- DĂŒzel Emrah
- Engelborghs Sebastiaan
- Epelbaum Jacques
- Escott-Price Valentina
- Escott-Price Valentina
- Escuela R.
- Escuela R.
- Espinosa A.
- Espinosa Ana
- Etchepareborda Ignacio
- Eugenia SĂĄez MarĂa
- Ewers Michael
- Fabrizio Tagliavini
- Fallgaard Nielsen Sune
- Farotti Lucia
- Fenoglio Chiara
- FernĂĄndez-Fuertes Marta
- Ferrarese Carlo
- Ferreira Catarina B
- Ferri Evelyn
- Feulner Thomas
- Fievet Nathalie
- Fievet Nathalie
- Fin Bertrand
- Fischer Peter
- Fisher Elizabeth
- Fladby Tormod
- Fladby Tormod
- FlieĂbach Klaus
- Foo Jia Nee
- Foo Jia Nee
- Forsell Charlotte
- Fortea J.
- Fortea Juan
- Fostinelli Silvia
- Fox Nick
- Fox Nick C.
- Fox Nick C.
- Franco E.
- Franco-MacĂas Emlio
- Frank-GarcĂa A.
- Frank-GarcĂa Ana
- Frikke-Schmidt Ruth
- Frikke-Schmidt Ruth
- Froelich Lutz
- Frölich Lutz
- Gailhajenet A.
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- Galeano Pablo
- Galimberti Daniela
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- Gan-Or Ziv
- Garcia Madrona S.
- Garcia-Gonzalez Pablo
- Garcia-Madrona Sebastian
- Garcia-Ribas G.
- Garcia-Ribas Guillermo
- Garcia-Ribas Guillermo
- GarcĂa-Alberca J.M.
- GarcĂa-Alberca JosĂ© MarĂa
- GarcĂa-GonzĂĄlez P.
- GarcĂa-GonzĂĄlez Pablo
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- Garrote-Espina L.
- Garrote-Espina L.
- Germani Sandra
- Gerrish Amy
- Gerrish Amy
- Ghanbari Mohsen
- Ghidoni Roberta
- Giedraitis Vilmantas
- Giedraitis Vilmantas
- Giegling Ina
- Giegling Ina
- Gill Michael
- Gill Michael
- Gill Michael
- Gim Jungsoo
- Giorgio Giaccone
- Goldhardt Oliver
- Goldhardt Oliver
- GonzĂĄlez-PĂ©erez A.
- GonzĂĄlez-PĂ©rez Antonio
- Graff Caroline
- Graff Caroline
- Grande Giulia
- Green Emma
- Greicius Michael D.
- Grenier-Boley Benjamin
- Grenier-Boley Benjamin
- Grenier-Boley Benjamin
- Grimmer Timo
- GrĂŒnblatt Edna
- GrĂŒnblatt Edna
- Gu Wei
- Guerreiro Rita
- Guetta-Baranes Tamar
- Guitart M.
- Guitart Marina
- Gurling Hugh
- Gwilliam Rhian
- Gwilliam Rhian
- GĂłmez-Garre P.
- GĂłmez-Garre P.
- Haapasalo Annakaisa
- Hadjigeorgiou Georgios
- Hampel Harald
- Hampel Harald
- Hannequin Didier
- Hanon Olivier
- Hanon Olivier
- Hanon Olivier
- Hardy John
- Hardy John
- Hardy John
- Harold Denise
- Harold Denise
- Hartmann Annette M.
- Hartmann Annette M.
- Harwood Janet
- Hausner Lucrezia
- Hausner Lucrezia
- He Zihuai
- Heilmann-Heimbach Stefanie
- Heilmann-Heimbach Stefanie
- Helisalmi Seppo
- Heneka Michael T.
- HernĂĄndez Isabel
- Herold Christine
- Herrmann Martin J.
- Heun Reinhard
- Heuser Isabella
- Hevilla S.
- Hiltunen Mikko
- Hiltunen Mikko
- Hodges Angela
- Hoffmann Per
- Hoffmann Per
- Hollingworth Paul
- Hollingworth Paul
- Holmans Peter
- Holmans Peter A.
- Holmes Clive
- Holmes Clive
- Holstege Henne
- Holstege Henne
- Hooper Nigel M.
- Hort Jakub
- Hort Jakub
- Huerto Vilas Raquel
- Hulsman Marc
- HĂŒll Michael
- Ibarria M.
- Ibarria Marta
- Ignacio Bacha Juan
- Ignacio Brusco Luis
- Ikeuchi Takeshi
- Ingelsson Martin
- Ingelsson Martin
- Ingino Carlos
- Jan Biessels Geert
- Janowitz Daniel
- Jansen Iris
- Jansen Iris
- Jeon Beom S.
- Jessen Frank
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- JesĂșs S.
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- Jiang Lulu
- Johansson Charlotte
- Johnston Janet A.
- Johnston Jarret A.
- Jones Lesley
- Jones Lesley
- Jung Yoo Jin
- Jöckel Karl-Heinz
- JĂŒrgen Deckert
- Kauwe John
- Kehoe Patrick
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- Kehoe Patrick G.
- Kern Silke
- Khor Chiea Chuen
- Kilander Lena
- Kinhult StÄhlbom Anne
- Kivipelto Miia
- Kleineidam Luca
- Klopp Norman
- Kochen Silvia
- Koh Woon-Puay
- Kohler Eduardo
- Kohler Matias
- Koivisto Anne
- Kornhuber Johannes
- Kornhuber Johannes
- Kosmidis Mary H.
- Kuulasmaa Teemu
- Kuulasmaa Teemu
- Kölsch Heike
- KĂŒĂ§ĂŒkali Fahri
- KĂŒĂ§ĂŒkali Fahri
- Laatikainen Tiina
- Labrador Espinosa M.A.
- Labrador Ma
- Lacidogna Giordano
- Lacour ndré
- Laczo Jan
- Lafuente A.
- Lafuente AsunciĂłn
- Lage C.
- Lage Carmen
- Lage Carmen
- Lambert Jean-Charles
- Lambert Jean-Charles
- Lambert Jean-Charles
- Laske Christoph
- Laukka Erika J
- Lauria Alessandra
- Lawlor Brian
- Lawlor Brian
- Le Guen Yann
- Lee Kun Ho
- Legaz A.
- Lehtisalo Jenni
- Lerch Ondrej
- Lian Michelle M.
- Lian Michelle Mulan
- Lim Jia Lun
- Lim Shen-Yang
- Lin Juei-Jueng
- Lin Ling
- Lindström Jaana
- Lis Palacio Dana
- Lisso Julieta
- Liu Chunfeng
- Liu Jianjun
- Livingston Gill
- Livingston Gill
- LleĂł Alberto
- LleĂło A.
- Lord Jenny
- Love Seth
- Love Seth
- Lovestone Simon
- Lovestone Simon
- Luckcuck Lauren
- Luckcuck Lauren
- Luis Royo Jose
- Luo Guo
- Lupton Michelle
- Lupton Michelle
- LuĂs Royo Jose
- Lynch Aoibhinn
- Lynch Aoibhinn
- LĂłopez de MunĂĄin A.
- LĂłpez-GarcĂa S.
- LĂłpez-GarcĂa Sara
- Löwemark Malin
- Macias J.
- Macias-GarcĂa D.
- Macias-GarcĂa D.
- MacLeod Catherine A.
- MacĂas Juan
- Magda Tsolaki
- Maier Wolfgang
- Maier Wolfgang
- Malik Rainer
- Mangialasche Francesca
- Mangone Carlos
- Mann David
- Mann David
- Manzanares S.
- Mao Chengjie
- Marco Spallazzi
- Maria GarcĂa-Alberca Jose
- Maroñas O.
- Marquié M.
- Marquié M.
- Marquié Marta
- Marshall Rachel
- Marshall Rachel
- MartĂn Montes A.
- MartĂn Montes Angel
- MartĂn E.
- MartĂn Elvira
- MartĂnez RodrĂguez Carmen
- MartĂnez B.
- MartĂnez C.
- MartĂnez M.T.
- MartĂnez V.
- MartĂnez-Lage Ălvarez A.
- MarĂn M.
- MarĂn M.
- MarĂn T.
- MarĂn-Muñoz J.
- Masullo Carlo
- Masullo Carlo
- Mata Ignacio
- Mather Karen
- Matoska Vaclav
- MauleĂłn Ana
- Mayhaus Manuel
- Mayo Kevin
- McGuinness Bernadette
- McGuinness Bernadette
- McQuillin Andrew
- McQuillin Andrew
- Mead Simon
- Mead Simon
- Meah Wee-Yang
- Mecocci Patrizia
- Mecocci Patrizia
- Medel Nancy
- Medina M.
- Medina Miguel
- Meggy Alun
- Meggy Alun
- Mehrabian Shima
- Mehrabian Shima
- Mendioroz Iriarte M.
- Mendoza Silvia
- Menéndez-Gonzålez M.
- Menéndez-Gonzålez Manuel
- Mignot Emmanuel
- Mir P.
- Mir Pablo
- Mir Pablo
- Miyashita Akinori
- Moebus Susanne
- Moebus Susanne
- Moebus Susanne
- Mok Shi Qi
- Mok Vincent
- Mol Merel
- Molina-Porcel Laura
- Montrreal L.
- Montrreal L.
- Montrreal Laura
- Morelli Laura
- Moreno Fermin
- Moreno Fermin
- Moreno M.
- Moreno Mariona
- Moreno-Grau S.
- Moreno-Grau Sonia
- Morgan Kevin
- Morgan Kevin
- Morizono Takashi
- Morris John
- Muchnik Carolina
- Mummery Catherine
- Möthen Markus M
- Nacmias Benedetta
- Nacmias Benedetta
- Naito Tatsuhiko
- Nash William
- Natunen Teemu
- Ng Ebonne Y.
- Ngandu Tiia
- Nicolas Aude
- Nicolas Gael
- Nicolas Gael
- Niida Shumpei
- Nordestgaard BĂžrge G.
- Nordestgaard BĂžrge G.
- Novack Gisela
- Nuñez-Llaves R.
- Nöthen Markus M.
- O'Donovan Michael
- O'Donovan Michael C.
- Okada Yukinori
- Olaso Robert
- Olivar Natividad
- Olivé C.
- Orellana A.
- Orellana A.
- Orellana Adelina
- Orsini Michela
- Ortega G.
- Ortega Gemma
- Ortiz Cecilia
- Owen Michael
- Owen Michael J.
- Ozaki Kouichi
- Pablo Tartan Juan
- Padovani Alessandro
- Pancho A.
- Pancho Ana
- Paola Zoia Chiara
- Paolo Caffarra
- Papenberg Goran
- Papenberg Goran
- Papma Janne
- Park Hyeonseul
- Parnetti Lucilla
- Parnetti Lucilla
- Parveen Kayenat
- Parveen Kayenat
- Pasquier Florence
- Pasquier Florence
- Pasquier Florence
- Passmore Peter
- Passmore Peter
- Pastor P.
- Pastor Pau
- Pastor Pau
- Patel Yogen
- Pei Zhong
- Peixoto Leal Thiago
- PelejĂ E.
- PelejĂ Esther
- Peltonen Markku
- Peng Rong
- Pericard Pierre
- Periñån Mt
- Periñån-Tocino T.
- Perneczky Robert
- Peters Oliver
- Peters Oliver
- Pickering-Brown Stuart
- Pijnenburg Yolande A. L.
- Pijnenburg Yolande A.L.
- Pinchler Sabrina
- Pineda J.A.
- Pineda Juan A.
- Pineda-SĂĄnchez R.
- Pineda-SĂĄnchez R.
- Piras Fabrizio
- Piras Federica
- Pisanu Claudia
- Piñol Ripoll G.
- Piñol-Ripoll Gerard
- Piñol-Ripoll Gerard
- Polak Thomas
- Politis Daniel G.
- Popp Julius
- Popp Julius
- Porcel Laura Molina
- Posthuma Danielle
- Powell John
- Powell John F.
- Prakash Kumar-M.
- Preckler S.
- Preckler Silvia
- Priller Josef
- Proitsi Petra
- Proitsi Petra
- Prokic Ivana
- Puerta R.
- Puerta Raquel
- Puerta Raquel
- PĂ©erez Tur J.
- PĂ©rez-Cordon A.
- PĂ©rez-CordĂłn Alba
- PĂ©rez-Tur Jordi
- PĂ©rez-Tur Jordi
- Quenez Olivier
- Quintela I.
- Quintela Inés
- Qvist Thomassen Jesper
- Rainero Innocenzo
- Rainero Innocenzo
- Ramakers Inez
- Ramakers Inez
- Ramirez Alfredo
- Ramirez Alfredo
- Ramirez Alfredo
- Real de AsĂșa D.
- Real L.M.
- Real Luis M.
- Real Luis M.
- Reinders Marcel J.T.
- Reyes Toso Carlos
- Riedel-Heller Steffi
- Riedel-Heller Steffi
- Riedel-Heller Steffi
- Riederer Peter
- Riemenschneider Matthias
- Rios Mario
- Ritchie Karen
- Roberto Natalia
- Rodrigo S.
- Rodrigo-Herrero Silvia
- Rodriguez-Rodriguez Eloy
- Rodriguez-Rodriguez Eloy
- RodrĂguez-RodrĂguez E.
- Rojo Matias
- Rong Zhang Bao
- Rongve Arvid
- Rongve Arvid
- Rosas Allende Irene
- Rosende-Roca M.
- Rosende-Roca Maitée
- Ross Owen A.
- Rossi Giacomina
- Rossi Giacomina
- Rossor Martin
- Rossor Martin
- Roveta Fausto
- Royo J.L.
- Rubino Elisa
- Rubinsztein David C.
- Rubinsztein David C.
- Ruiz A.
- Ruiz A.
- Ruiz AgustĂn
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- Rujescu Dan
- Rujescu Dan
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- Ryan Natalie S.
- Ryan Nathalie
- RĂĄabano A.
- RĂĄbano Alberto
- Sachdev Perminder
- Saenz Aldo
- Sakka Paraskevi
- Sala Gessica
- Saltvedt Ingvild
- Saltvedt Ingvild
- Salvadori Nicola
- Sanabria A.
- Sanabria Ăngela
- Sanchez Abalos Mariana
- Sanchez del Valle DĂaz R.
- Sanchez-Garcia Florentino
- Sando Sigrid B.
- Sando Sigrid B.
- Sastre MerlĂn Isabel
- Sastre I.
- Satake Wataru
- Scamosci Michela
- Scarmeas Nikolaos
- Scarmeas Nikolaos
- Scarpini Elio
- Scheltens Philip
- Scheltens Philip
- Scherbaum Norbert
- Scherbaum Norbert
- Scherer Martin
- Scherer Martin
- Schmid Matthias
- Schneider Anja
- Schneider Anja
- Schott Jonathan M.
- Schott Jonathan M.
- SchĂŒrmann Britta
- SelbĂŠk Geir
- SelbĂŠk Geir
- Selnes Per
- Sempere Vicente
- Seripa Davide
- Seripa Davide
- Serpente Maria
- Serrano-Rios M.
- Sevillano Zulma
- Shadrin Alexey A.
- Shadrin Alexey A.
- Shang Hui-Fang
- Shaw Christopher E.
- Shaw Christopher E.
- Shi Chang-He
- Shofany Jacob
- Sims Rebecca
- Sims Rebecca
- Sims Rebecca
- Singleton Andrew B.
- Skoog Ingmar
- Skrobot Olivia
- Sleegers Kristel
- Sleegers Kristel
- Soininen Hilkka
- Solfrizzi Vincenzo
- Solfrizzi Vincenzo
- Solis Patricia
- Solomon Alina
- Song Kyuyoung
- Sorbi Sandro
- Sotolongo-Grau O.
- Sotolongo-Grau O.
- Sotolongo-Grau Oscar
- Spalletta Gianfranco
- Spalletta Gianfranco
- Spottke Annika
- Squassina Alessio
- Squassina Alessio
- Stordal Eystein
- Stordal Eystein
- Strandberg Timo
- Sussams Rebecca
- SĂĄez M.E.
- SĂĄnchez Juan Pascual
- SĂĄnchez-Arjona MarĂa Bernal
- SĂĄnchez-Juan P.
- SĂĄnchez-Juan Pascual
- SĂĄnchez-Valle Raquel
- SĂĄnchez-Valle Raquel
- Takalo Mari
- Talyansky Seth D.
- Tan Ai Huey
- Tan Eng-King
- Tan Eng-King
- Tan Louis C.S.
- Tandiono Moses
- Tegos Thomas
- Teipel Stefan
- Teresa MartĂnez-Larrad MarĂa
- TesĂ Niccolo
- Teunissen Charlotte
- Thalamuthu Anbupalam
- Thomas Charlene
- Thomas Tegos
- Thomassen Jesper Qvist
- Thonberg HĂ„kan
- Toda Tatsushi
- Todd Stephen
- Todd Stephen
- Traykov Latchezar
- Tremolizzo Lucio
- Tremolizzo Lucio
- Tsolaki Magda
- Tsolaki Magda
- Tuomilehto Jaakko
- Turton James
- TybjĂŠrg-Hansen Anne
- Tzourio Christophe
- TĂĄarraga L.
- TĂĄrraga LluĂs
- Uitterlinden Andre
- Ullgren Abbe
- Ulstein Ingun
- Ulstein Ingun
- Uphill James
- Vacca Alessandro
- Valero S.
- Valero S.
- Valero Sergi
- Van Broeckhoven Christine
- van der Flier Wiesje
- van der Flier Wiesje M.
- van der Lee Sven J.
- van der Lugt Aad
- Van Dongen Jasper
- van Duijn Cornelia M.
- Van Duin Cornelia
- van Rooij Jeroen
- van Swieten John
- van Swieten John
- Vandenberghe Rik
- Vardy Emma
- Vargas L.
- Vargas Liliana
- Verhey Frans
- Verhey Frans
- Vicente M.P.
- Vidal Jean-SĂ©bastien
- Vigo-Ortega R.
- Vigo-Ortega R.
- Vivancos L.
- Vogelgsang Jonathan
- Vyhnalek Martin
- Vyhnalek Martin
- Waern Margda
- Wagner Michael
- Wallon David
- Wallon David
- Warden Donald
- Warner Nick
- Warren Jason D.
- Weber Heike
- Weinhold Leonie
- Wichmann H-Erich
- Wilcock Gordon
- Williams Amy
- Williams Julie
- Williams Julie
- Williams Julie
- Wiltfang Jens
- Wiltfang Jens
- Wiltfang Jens
- Windle Gill
- Woods Bob
- Wu Yih-Ru
- Xu Renshi
- Xu Yu-ming
- Yan Yaping
- Yang Jing
- Yannakoulia Mary
- Yaqub Amber
- Yogeshwar Selina Maria
- Yonkova Mihova Kalina
- Yu Eric
- Zetterberg Henrik
- Zettergren Anna
- Zhang Jing
- Zulaica Miren
- Ălvarez I.
- Ălvarez V.
- Ălvarez Victoria
- Publication venue
- National Academy of Sciences
- Publication date
- 29/08/2023
- Field of study
Across multiancestry groups, we analyzed Human Leukocyte Antigen (HLA) associations in over 176,000 individuals with Parkinsonâs disease (PD) and Alzheimerâs disease (AD) versus controls. We demonstrate that the two diseases share the same protective association at the HLA locus. HLA-specific fine-mapping showed that hierarchical protective effects of HLA-DRB1*04 subtypes best accounted for the association, strongest with HLA-DRB1*04:04 and HLA-DRB1*04:07, and intermediary with HLA-DRB1*04:01 and HLA-DRB1*04:03. The same signal was associated with decreased neurofibrillary tangles in postmortem brains and was associated with reduced tau levels in cerebrospinal fluid and to a lower extent with increased AÎČ42. Protective HLA-DRB1*04 subtypes strongly bound the aggregation-prone tau PHF6 sequence, however only when acetylated at a lysine (K311), a common posttranslational modification central to tau aggregation. An HLA-DRB1*04-mediated adaptive immune response decreases PD and AD risks, potentially by acting against tau, offering the possibility of therapeutic avenues
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
- Author
- Abbott Kristin M.
- Abbott Kristin M.
- Afenjar Alexandra
- Agathe Jean-Madeleine de Sainte
- Agathe Jean-Madeleine de Sainte
- Albuisson Juliette
- Alembik Yves
- Alessandri Jean-Luc
- Alexander Elizabeth
- Allamand Valérie
- Alonso GarcĂa de la Rosa F. Javier
- Amiel Jeanne
- Amram Daniel
- Aretz Stefan
- Atalaia Antonio
- Attie-Bitach Tania
- Baets Jonathan
- Balestrini Simona
- Balicza Peter
- Banfi Sandro
- Banka Siddharth
- Banka Siddharth
- Banka Siddharth
- Baujat GeneviĂšve
- BaĆak AyĆe Nazlı
- Beeson David
- Beijer Danique
- Bellanger SĂ©verine Audebert
- Beltran Sergi
- Ben Yaou Rabah
- Benetti Elisa
- Benetti Elisa
- Bettolo Chiara Marini
- Bigoni Stefania
- Bitoun Pierre
- Bizaoui Varoona
- Blesson Sophie
- Boer Elke de
- Bongers Ernie
- Bonne GisĂšle
- Bonnet-Dupeyron Marie Noëlle
- Bonniaud Bertille
- Bourbouli Mara
- Bournez Marie
- Boute Odile
- Boztug Kaan
- Brookes Anthony J.
- Bros-Facer Virginie
- Bruel Ange-Line
- Bruel Ange-Line
- Brunner Han
- Bullich Gemma
- Busa Tiffany
- Cali Elisa
- Capella Gabriel
- Capri Yline
- Carneiro FĂĄtima
- Carpancea Evelina
- Cartault François
- Cazurro-Gutiérrez Ana
- Chahdil Maroua
- Chassaing Nicolas
- Chiaverini Christine
- Chinnery Patrick F.
- Cilio Maria-Roberta
- Ciolfi Andrea
- Ciolfi Andrea
- Ciolfi Andrea
- Claeys Kristl
- Clayton-Smith Jill
- Clayton-Smith Jill
- Clayton-Smith Jill
- Coarelli Giulia
- Cohen Enzo
- Cohen Enzo
- Colin Estelle
- Colobran Roger
- Colson Cindy
- Cordier-Alex Marie-Pierre
- Cordts Isabell
- Corvo Alberto
- Cossins Judith
- Costa Alessia
- Coubes Christine
- Cusin VĂ©ronica
- Dallapiccola Bruno
- Dallapiccola Bruno
- Dallapiccola Bruno
- Danis Daniel
- Danis Daniel
- Davoine Claire-Sophie
- de Boer Elke
- de Boer Elke
- de Boer Elke
- de Jonghe Peter
- De la Paz Manuel Posada
- De Ridder Willem
- de Voer Richarda M.
- de Vries Bert B.A.
- de Vries Geert
- De Winter Jonathan
- Delanne Julian
- Delgado Beatriz MartĂnez
- Demeer Bénédicte
- Demidov German
- Denommé-Pichon Anne-Sophie
- Denommé-Pichon Anne-Sophie
- Denommé-Pichon Anne-Sophie
- Denommé-Pichon Anne-Sophie
- Depienne Christel
- Depondt Chantal
- Dermaut Bart
- Deschauer Marcus
- Desplantes Claire
- Diene Gwenaëlle
- Dieux-Coeslier Anne
- Dizjikan Farid Yavari
- Doco-Fenzy Martine
- DoleĆŸalovĂĄ Pavla
- Doray Bérénice
- Drouin-Garraud Valérie
- Drunat SĂ©verine
- Duerinckx Sarah
- Duffourd Yannis
- Duffourd Yannis
- Durr Alexandra
- Efthymiou Stephanie
- El Chehadeh Salima
- Ellwanger Kornelia
- Ellwanger Kornelia
- Engelhardt Karin
- Evangeliou Athanasios
- Evangelista Teresinha
- Eymard Bruno
- Faivre Laurence
- Faivre Laurence
- Faivre Laurence
- Fallerini Chiara
- Fallerini Chiara
- Fargeot Anne
- Feillet François
- Ferlini Alessandra
- Fernandes Susana
- Fernandez-Callejo Marcos
- Ferreira Marta
- Ferreira Pedro
- Fradin MĂ©lanie
- Francannet Christine
- FrankovĂĄ Vera
- Freeberg Mallory
- Furini Simone
- Gaillard Dominique
- Gao Fei
- Gao Fei
- Garrido Luzia
- GeneviĂšve David
- Gibson Spencer
- Gilbert-Dussardier Brigitte
- Gilissen Christian
- Gilissen Christian
- Gilissen Christian
- Gilissen Christian
- Giuliano Fabienne
- Goizet Cyril
- Goldenberg Alice
- Graessner Holm
- Graessner Holm
- Grimbacher Bodo
- Grotto Sarah
- Gualandi Francesca
- Guerrini Renzo
- Guerrot Anne-Marie
- Guillot-Noel LĂ©na
- Gullo Irene
- Gumus Gulcin
- Gut Ivo Glynne
- GĂ©rard-Blanluet Marion
- Haack Tobias B.
- Haack Tobias B.
- Haack Tobias B.
- Hackman Peter
- Haimel Matthias
- Hambleton Sophie
- Hanauer Marc
- Hanna Mike
- Hanna Nadine
- Havlovicova Marketa
- Havlovicova Marketa
- Havlovicovå Markéta
- Heinzmann Anna
- Hemelsoet Dimitri
- Hengel Holger
- HernĂĄndez Carles
- Heron Delphine
- Heron Delphine
- Herzog Rebecca
- Heutink Peter
- Hoischen Alexander
- Hoischen Alexander
- Hoischen Alexander
- Holder-Espinasse Muriel H.
- Holinski-Feder Elke
- Hongnat Oscar
- Hoogerbrugge Nicoline
- Horvath Rita
- Horvath Rita
- Houcinat Nada
- Houlden Henry
- Iacomino Michele
- Isidor Bertrand
- Jackson Adam
- Jackson Adam
- Jackson Adam
- Jacquemin Emmanuel
- Jacquemont Marie-Line
- Janssen Erik
- Jarava Clara Franco
- Jean-Marçais Nolwenn
- Johanson Lennart
- Johansson Lennart
- Johari Mridul
- Johari Mridul
- José Celina São
- Jouk Pierre-Simon
- Jouret BĂ©atrice
- Journel Hubert
- Kamsteeg Erik-Jan
- Kapaki Elisabeth
- Keane Thomas
- Kegele Josua
- Keren Boris
- Kerstjens Frederikse Wilhemina S.
- Kerstjens Mieke
- Kessler Christoph
- Kilic Esra
- Kleefstra Tjitske
- Kleefstra Tjitske
- Kleefstra Tjitske
- Kokosali Evgenia
- KremlikovĂĄ Radka PourovĂĄ
- Köhler Sebastian
- Lacaze Elodie
- Lacombe Didier
- Lacombe Didier
- Laffargue Fanny
- Lagorce David
- Lambert Laëtitia
- Lambros Mathioudakis
- Laner Andreas
- Laudier BĂ©atrice
- Laurie Steven
- Layet Valérie
- Lebreton Emeline
- Lederer Damien
- Lederer Damien
- Lehalle Daphné
- Leheup Bruno
- Leperrier Nathalie
- Lerche Holger
- Lespinasse James
- Li Shuang
- LiĆĄkovĂĄ Petra
- LochmĂŒller Hanns
- LochmĂŒller Hanns
- Lohmann Katja
- Lyonnet Stanislas
- LĂłpez-MartĂn Estrella
- Macaya Alfons
- Macek Milan
- Macek Milan
- Macek Milan
- Maddi Vatsalya
- Magrinelli Francesca
- Manera Jordi Diaz
- Marcé-Grau Anna
- Marlin Sandrine
- Martinovic Jelena
- MartĂn Estrella LĂłpez
- MartĂn Estrella LĂłpez
- Mary Sandrine
- Masurel Alice
- MasĂł Laura Batlle
- Matalonga Leslie
- Matalonga Leslie
- Matalonga Leslie
- Matalonga Leslie
- Mathieu MichĂšle
- Matos Ana Rita
- Maver Ales
- May Patrick
- Maystadt Isabelle
- Maystadt Isabelle
- Maystadt Isabelle
- Mehtarizadeh Mehdi
- Mei Davide
- Mencarelli Maria Antonietta
- Metay Corinne
- Metcalfe Alison
- Mignot Cyril
- Molin Arnaud
- Molnar Maria Judit
- Morice-Picard Fanny
- Morin Gilles
- Morleo Manuela
- Morleo Manuela
- Morsy Heba
- Morsy Heba
- Moutton SĂ©bastien
- Munell Francina
- Muntoni Francesco
- Musacchia Francesco
- Mutarelli Margherita
- MĂŒnchau Alexander
- Nambot Sophie
- Natera de Benito Daniel
- Naudion Sophie
- Neerincx Pieter B.
- Neiva Cecilia
- Nelson Isabelle
- Nelson Isabelle
- Neri Marcella
- Nigro Vicenzo
- Nigro Vincenzo
- Odent Sylvie
- Oliveira Carla
- Osorio Andrés Nascimento
- Ossowski Stephan
- Ousager Lilian Bomme
- Papakonstantinou Anastasios
- Paramonov Ida
- Paramonov Ida
- Parent Philippe
- Parkinson Helen
- Paske Iris te
- Passemard Sandrine
- Patch Christine
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- Philippe Christophe
- PicĂł Daniel
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- Pinelli Michele
- Pinelli Michele
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- Pizzi Simone
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- Polavarapu Kiran
- Poppe Bruce
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- Posada Manuel
- Prieur Fabienne
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- Pérez-Dueñas Belén
- Quélin Chloé
- Radio Francesca C.
- Radio Francesca Clementina
- Radio Francesca Clementina
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- Ratnaike Thiloka
- Reilly Mary
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- Renieri Alessandra
- Renieri Alessandra
- Reversade Bruno
- Riaz Umar
- Riess Olaf
- Riess Olaf
- Riva Antonella
- Robert Glenn
- Robinson Peter
- Robinson Peter
- Roelofs-Prins Dieuwke
- Rohrer Jonathan
- Rooryck Caroline
- Rooryck Caroline
- Rooryck Caroline
- Roos Andreas
- Rossi Massimiliano
- Rossi Rachele
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- Ryba Lukas
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- Savarese Marco
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- Schaefer Ălise
- Scheffer Hans
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- Schwarz Martin
- Schwarz Martin
- Schöls Ludger
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- Steyaert Wouter
- Steyaert Wouter
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- Straub Volker
- Striano Pasquale
- Sturm Marc
- Swertz Morris A.
- Synofzik Matthis
- Sznajer Yves
- SĂĄnchez Eva Bermejo
- Tartaglia Marco
- Tartaglia Marco
- Tartaglia Marco
- te Paske Iris B.A.W.
- Thauvin Christel
- Thauvin Christel
- Thauvin-Robinet Christel
- Thevenon Julien
- Thomas Coline
- ThomasovĂĄ Dana
- Thompson Rachel
- Timmerman Vincent
- Torella Annalaura
- Torella Annalaura
- Touraine Renaud
- Toutain Annick
- Tran Mau-Them Frédéric
- TraschĂŒtz Andreas
- Trimouille Aurelien
- Trimouille Aurélien
- Trimouille Aurélien
- Trimouille Aurélien
- Turnovec Marek
- Töpf Ana
- Töpf Ana
- Udd Bjarne
- Uva Paolo
- Vabres Pierre
- Valle Laura
- Van de Vondel Liedewei
- van de Warrenburg Bart
- van der Velde Joeri K.
- van der Velde Joeri K.
- van der Vries Gerben
- van Gijn Marielle
- Van Kien Philippe Khau
- Van Maldergem Lionel
- van Os Nienke
- Vandrovcova Jana
- Vandrovcova Jana
- Varavallo Alessandra
- Veal Colin
- Verdin Hannah
- Verloes Alain
- Verloes Alain
- Verloes Alain
- Vetro Annalisa
- Vincent Marie
- Vincent-Delorme Catherine
- Vissers Lisenka
- Vissers Lisenka E.L.M.
- Vissers Lisenka E.L.M.
- Vitobello Antonio
- Vitobello Antonio
- Vitobello Antonio
- Vitobello Antonio
- Votypka Pavel
- Votypka Pavel
- W.E Gijs
- Warren Greg
- Wayand Melanie
- Weckhuysen Sarah
- Wells Constance
- Whalen Sandra
- Wilke Carlo
- Willems Marjolaine
- Willemsen Marjolein H.
- Xu Jishu
- Yaldiz Burcu
- Zaganas Ioannis
- Zaharieva Irina
- Zara Federico
- Zguro Kristina
- Zivi Einat
- Zonneveld-Huijssoon Eveline
- Zurek Birte
- Zurek Birte
- ât Hoen Peter A.C.
- Publication venue
- 'Elsevier BV'
- Publication date
- 01/01/2023
- Field of study
Purpose
Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the âClinVar low-hanging fruitâ reanalysis, reasons for the failure of previous analyses, and lessons learned.
Methods
Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted.
Results
We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency).
Conclusion
The âClinVar low-hanging fruitâ analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock
Surveillance des complications liées aux cathéters centraux insérés par voie périphérique (PICC) (étude de cohorte sur 194 cas)
- Author
- Publication venue
- Publication date
- 01/01/2011
- Field of study
MONTPELLIER-BU Pharmacie (341722105) / SudocSudocFranceF
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