45 research outputs found
Systematic assessment of long-read RNA-seq methods for transcript identification and quantification
- Author
- Adams Matthew S
- Balderrama-Gutierrez Gabriela
- Barnes If
- Behera Amit K
- Berry Andrew
- Birol Inanc
- Bostan Hamed
- Brooks Angela N
- Brooks Ashley M
- Capella Salvador
- Carbonell-Sala Sílvia
- Carninci Piero
- Chen Ying
- Conesa Ana
- De María Maite
- Denslow Nancy D
- Dhillon Namrita
- Diekhans Mark
- Du Mei RM
- Fai Au Kin
- Felton Colette
- Fernandez-Gonzalez Jose M
- Ferrández-Peral Luis
- Frankish Adam
- Garcia-Reyero Natàlia
- Goetz Stefan
- Gonzalez Jose M
- Guigó Roderic
- Göke Jonathan
- Hafezqorani Saber
- Hasan Çelik Muhammed
- Hernández-Ferrer Carles
- Herwig Ralf
- Hunt Toby
- Hunter Margaret E
- Jerryd Meade Marcus
- Kawaji Hideya
- Kei Wan Yuk
- Kondratova Liudmyla
- Lagarde Julien
- Laird Smith Melissa
- Lee Joseph
- Li Haoran
- Liang Li Jian
- Liang Cindy E
- Lienhard Matthias
- Liu Tianyuan
- Loveland Jane E
- Martinez-Martin Alessandra
- Menor Carlos
- Mestre-Tomás Jorge
- Mikheenko Alla
- Ming Nip Ka
- Moraga Amador David A
- Mortazavi Ali
- Mudge Jonathan M
- Mulligan Dennis
- Panayotova Nedka G
- Paniagua Alejandro
- Pardo-Palacios Francisco J
- Pertea Mihaela
- Prjibelski Andrey D
- Reese Fairlie
- Repchevsky Dmitry
- Ritchie Matthew E
- Rouchka Eric
- Saint-John Brandon
- Sapena Enrique
- Sheynkman Gloria M
- Sheynkman Leon
- Sim Andre D
- Suner Marie-Marthe
- Takahashi Hazuki
- Tang Alison D
- Tilgner Hagen U
- Vollmers Christopher
- Wang Changqing
- Wang Dingjie
- Williams Brian
- Wold Barbara J
- Wong Brandon Y
- Yang Chen
- Youngworth Ingrid Ashley
- Publication venue
- bioXRiv
- Publication date
- 27/07/2023
- Field of study
The Long-read RNA-Seq Genome Annotation Assessment Project (LRGASP) Consortium was formed to evaluate the effectiveness of long-read approaches for transcriptome analysis. The consortium generated over 427 million long-read sequences from cDNA and direct RNA datasets, encompassing human, mouse, and manatee species, using different protocols and sequencing platforms. These data were utilized by developers to address challenges in transcript isoform detection and quantification, as well as de novo transcript isoform identification. The study revealed that libraries with longer, more accurate sequences produce more accurate transcripts than those with increased read depth, whereas greater read depth improved quantification accuracy. In well-annotated genomes, tools based on reference sequences demonstrated the best performance. When aiming to detect rare and novel transcripts or when using reference-free approaches, incorporating additional orthogonal data and replicate samples are advised. This collaborative study offers a benchmark for current practices and provides direction for future method development in transcriptome analysis
Genome analysis of a major urban malaria vector mosquito, Anopheles stephensi
- Author
- A Bhutkar
- A Brantley Hall
- A Conesa
- A Kasprzyk
- A Stamatakis
- A Xia
- AA Hoffmann
- AA Horton
- AB Hall
- AC English
- AE Brown
- AL Smidler
- Aleksey Komissarov
- Anthony A James
- Ashley Peery
- AT Isaacs
- Atashi Sharma
- B Arca
- BL Cantarel
- Bo Wang
- C Mitri
- C Trapnell
- Chioma Oringanje
- CJL Murray
- CS Chin
- D Arsic
- D Zhou
- DA Baker
- DA O’Brochta
- Dan Lawson
- DE Neafsey
- E Quevillon
- EA Baricheva
- EP Nawrocki
- F Criscione
- F Mahmood
- G Benson
- G Bian
- G Bourque
- G Denisov
- G Gibson
- G Parra
- G Tesler
- Gareth Maslen
- H Wickham
- I Korf
- I Price
- Igor V Sharakhov
- IV Sharakhov
- J Choi
- J Rafinejad
- JG Valenzuela
- JM Ranz
- JM Ranz
- JMC Ribeiro
- Jose M C Ribeiro
- Jose M C Tubio
- K Eilbeck
- Karin Eiglmeier
- Kenneth D Vernick
- Kristin Michel
- KS Rai
- KV Anderson
- L Guy
- LS Garver
- M Frisch
- M Laplante
- M Pop
- M Stanke
- Maria F Unger
- Maria V Sharakhova
- Marta Tojo
- MC Göpfert
- MI Love
- Michael A Riehle
- Michelle M Riehle
- MJ Chaisson
- MK Faulde
- MK Lawniczak
- MT White
- MV Sharakhova
- MV Sharakhova
- MV Sharakhova
- N Pakpour
- Nazzy Pakpour
- O Marinotti
- Peter Arensburger
- Phillip George
- PL Alonso
- Q Peng
- RA Holt
- RC Edgar
- RGA Feachem
- RH Baker
- RM Waterhouse
- Robert M Waterhouse
- Robert Settlage
- Ryan C Kennedy
- S Anders
- S Capella-Gutierrez
- S Falcon
- S Griffiths-Jones
- S Hunter
- S Kumar
- S Kurtz
- S Luckhart
- S Tempel
- Scott Emrich
- Shirley Luckhart
- Shrinivasrao P Mane
- SK Gakhar
- SS Grewal
- SW Schaeffer
- T Dechat
- T Nolan
- TD Wu
- TM Lowe
- V Nene
- VA Timoshevskiy
- Victoria L M Davidson
- VP Sharma
- W McLaren
- Xiao-Guang Chen
- Xiaofang Jiang
- Y Dong
- Y Si
- Y Wurm
- Yogesh Shouche
- Yumin Qi
- Z Xi
- Zhijian Tu
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Systematic assessment of long-read RNA-seq methods for transcript identification and quantification
- Author
- Adams Matthew S.
- Au Kin Fai
- Balderrama-Gutierrez Gabriela
- Barnes If
- Behera Amit K.
- Berry Andrew E.
- Birol Inanc
- Bostan Hamed
- Brooks Angela N.
- Brooks Ashley M.
- Capella-Gutierrez Salvador
- Carbonell-Sala Sílvia
- Carninci Piero
- Chen Ying
- Conesa Ana
- Cousineau Alyssa
- De María Maite
- Denslow Nancy D.
- Dhillon Namrita
- Diekhans Mark
- Du Mei R. M.
- Felton Colette
- Fernandez-Gonzalez Jose M.
- Ferrández-Peral Luis
- Frankish Adam
- Garcia-Reyero Natàlia
- Gonzalez Martinez Jose M.
- Guigó Roderic
- Göke Jonathan
- Götz Stefan
- Hafezqorani Saber
- Hernández-Ferrer Carles
- Herwig Ralf
- Hunt Toby
- Hunter Margaret E.
- Kawaji Hideya
- Kondratova Liudmyla
- Lagarde Julien
- Lee Joseph
- Li Haoran
- Li Jian-Liang
- Liang Cindy E.
- Lienhard Matthias
- Liu Tianyuan
- Loveland Jane E.
- Maehr Rene
- Martinez-Martin Alessandra
- Meade Marcus Jerryd
- Menor Carlos
- Mestre-Tomás Jorge
- Mikheenko Alla
- Moraga Amador David A.
- Mortazavi Ali
- Mudge Jonathan M.
- Mulligan Dennis
- Nip Ka Ming
- Panayotova Nedka G.
- Paniagua Alejandro
- Pardo-Palacios Francisco J.
- Pertea Mihaela
- Prjibelski Andrey D.
- Reese Fairlie
- Ren Xingjie
- Repchevsky Dmitry
- Ritchie Matthew E.
- Rouchka Eric
- Saint-John Brandon
- Sapena Enrique
- Shen Yin
- Sheynkman Gloria M.
- Sheynkman Leon
- Sim Andre D.
- Smith Melissa Laird
- Suner Marie-Marthe
- Takahashi Hazuki
- Tang Alison D.
- Tilgner Hagen U.
- Vollmers Christopher
- Wan Yuk Kei
- Wang Changqing
- Wang Dingjie
- Williams Brian
- Wold Barbara J.
- Wong Brandon Y.
- Yang Chen
- Youngworth Ingrid A.
- Çelik Muhammed Hasan
- Publication venue
- Nature Research
- Publication date
- 07/06/2024
- Field of study
The Long-read RNA-Seq Genome Annotation Assessment Project Consortium was formed to evaluate the effectiveness of long-read approaches for transcriptome analysis. Using different protocols and sequencing platforms, the consortium generated over 427 million long-read sequences from complementary DNA and direct RNA datasets, encompassing human, mouse and manatee species. Developers utilized these data to address challenges in transcript isoform detection, quantification and de novo transcript detection. The study revealed that libraries with longer, more accurate sequences produce more accurate transcripts than those with increased read depth, whereas greater read depth improved quantification accuracy. In well-annotated genomes, tools based on reference sequences demonstrated the best performance. Incorporating additional orthogonal data and replicate samples is advised when aiming to detect rare and novel transcripts or using reference-free approaches. This collaborative study offers a benchmark for current practices and provides direction for future method development in transcriptome analysis
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data.
- Author
- Alexander Elizabeth
- Allamand Valérie
- Aretz Stefan
- Atalaia Antonio
- Baets Jonathan
- Baets Jonathan
- Balicza Peter
- Balicza Peter
- Banfi Sandro
- Banka Siddharth
- Banka Siddharth
- Beeson David
- Beijer Danique
- Beijer Danique
- Beltran Sergi
- Beltran Sergi
- Benetti Elisa
- Bettolo Chiara Marini
- Bonne Gisèle
- Brookes Anthony J.
- Bros-Facer Virginie
- Bruel Ange-Line
- Brunner Han
- Bullich Gemma
- Capella Gabriel
- Capella Gabriel
- Carneiro Fátima
- Casari Giorgio
- Castello Raffaele
- Chinnery Patrick
- Ciolfi Andrea
- Clayton-Smith Jill
- Clayton-Smith Jill
- Coarelli Giulia
- Cohen Enzo
- Corvo Alberto
- Corvó Alberto
- Cossins Judith
- Cossins Judith
- Costa Alessia
- Cruz Pedro M. Rodriguez
- Cruz Pedro M. Rodriguez
- Cuesta Isabel
- 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 García
- de Voer Richarda
- de Voer Richarda M.
- Delgado Beatriz Martínez
- Demidov German
- Denommé-Pichon Anne-Sophie
- Denommé-Pichon Anne-Sophie
- Diez Hector
- Dizjikan Farid Yavari
- Duffourd Yannis
- Durr Alexandra
- Dürr Alexandra
- Ellwanger Kornelia
- Evangelista Teresinha
- Evans Gareth
- Eymard Bruno
- Faivre Laurence
- Faivre Laurence
- Ferlini Alessandra
- Fernandes Susana
- Fernandez-Callejo Marcos
- Fernandez-Callejo Marcos
- Ferreira Marta
- Ferreira Pedro
- Franková Vera
- Garcia Carles
- Garcia-Linares Carles
- Garrido Luzia
- Gibson Spencer
- Gilissen Christian
- Graessner Holm
- Graessner Holm
- Graessner Holm
- Guillot-Noel Léna
- Gullo Irene
- Gumus Gulcin
- Gut Ivo
- Gut Ivo Glynne
- Haack Tobias
- Haack Tobias B.
- Hackman Peter
- Hackman Peter
- Hammarsjö Anna
- Hanauer Marc
- Hanna Michael G.
- Hanna Mike
- Havlovicova Marketa
- Havlovicová Markéta
- Havrylenko Svitlana
- Heinzmann Anna
- Hengel Holger
- Hernández Carles
- Hernández-Ferrer Carles
- Herzog Rebecca
- Heutink Peter
- Hoischen Alexander
- Hoischen Alexander
- Holinski-Feder Elke
- Holinski-Feder Elke
- Hoogerbrugge Nicoline
- Horvath Rita
- Horvath Rita
- Houlden Henry
- Houlden Henry
- Hugon Anne
- Izem Katia
- Jackson Adam
- Jackson Adam
- Janssen Erik
- Johansson Lennart
- Johari Mridul
- Johari Mridul
- Johari Mridul
- Joshi Ricky
- José Celina São
- Kamsteeg Christoph
- Kamsteeg Erik-Jan
- Keane Thomas
- Kessler Christoph
- Kleefstra Tjitske
- Kremlik Vlastimil
- Kremliková Radka Pourová
- Köhler Sebastian
- Lagorce David
- Laner Andreas
- Laner Andreas
- Lau Jarred
- Laurie Steven
- Laurie Steven
- Li Shuang
- Lindstrand Anna
- Lochmüller Hanns
- Lochmüller Hanns
- Lochmüller Hanns
- Lohmann Katja
- Lohmann Katja
- López-Martín Estrella
- Macaya Alfons
- Macaya Alfons
- Macek Milan
- Macek Milan
- Macken William L.
- Marcé-Grau Anna
- Marcé-Grau Anna
- Martín Estrella López
- Matalonga Leslie
- Matalonga Leslie
- Matos Ana Rita
- Maver Ales
- Maver Ales
- Mehtarizadeh Mehdi
- Metay Corinne
- Metcalfe Alison
- Molnar Judit
- Molnar Maria Judit
- Morleo Manuela
- Muntoni Francesco
- Musacchia Francesco
- Münchau Alexander
- Münchau Alexander
- Nascimento Andres
- Natera-de Benito Daniel
- Neerincx Pieter B.
- Nelson Isabelle
- Neri Marcella
- Nigro Vicenzo
- Nigro Vincenzo
- Nordgren Ann
- Oliveira Carla
- Olry Annie
- Osorio Andres Nascimiento
- Ossowski Stephan
- Papakonstantinou Anastasios
- Papakonstantinou Anastasios
- Paramonov Ida
- Paramonov Ida
- Parkinson Helen
- Paske Iris te
- Patch Christine
- Pauly Martje
- Pelaez Jose Garcia
- Peterlin Borut
- Peterlin Borut
- Peters Sophia
- Pettersson Maria
- Peyron Christine
- Picó Daniel
- Picó Daniel
- Piluso Giulio
- Pinelli Michele
- Pini Veronica
- Piscia Davide
- Piscia Davide
- Pitceathly Robert D. S.
- Pizzi Simone
- Polavarapu Kiran
- Polavarapu Kiran
- Posada Manuel
- Prasanth Sivakumar
- Pélissier Aurore
- Radio Francesca Clementina
- Radio Francesca Clementina
- Rath Ana
- Reilly Mary
- Renieri Alessandra
- Riaz Umar
- Riess Olaf
- Rigour Fanny
- Robert Glenn
- Robinson Peter
- Roelofs-Prins Dieuwke
- Rooryck Caroline
- Rossi Rachele
- Rump Andreas
- Rump Andreas
- Ryba Lukas
- Sablauskas Karolis
- Sablauskas Karolis
- Sarkozy Anna
- Savarese Marco
- Savarese Marco
- Savarese Marco
- Scheffer Hans
- Schröck Evelin
- Schröck Evelin
- Schulze-Hentrich Julia M.
- Schwarz Martin
- Schöls Ludger
- Schüle Rebecca
- Schüle Rebecca
- Schüle-Freyer Rebecca
- Selvatici Rita
- Senf Alexander
- Shorter Thomas
- Sommer Anna Katharina
- Spalding Dylan
- Specht Sabine
- Spier Isabel
- Steehouwer Marloes
- Steinke-Lange Verena
- Steinke-Lange Verena
- Stevanin Giovanni
- Steyaert Wouter
- Stojkovic Tanya
- Straub Volker
- Sturm Marc
- Swertz Morris A.
- Synofzik Matthis
- Synofzik Matthis
- Sánchez Eva Bermejo
- Tartaglia Marco
- te Paske Iris
- Thauvin Christel
- Thauvin Christel
- Thomasová Dana
- Thompson Rachel
- Thompson Rachel
- Timmerman Vincent
- Tischkowitz Marc
- Tisserant Emilie
- Tonda Raul
- Torella Annalaura
- Torella Annalaura
- Trimouille Aurelien
- Trimouille Aurélien
- Turnovec Marek
- Töpf Ana
- Udd Bjarne
- Udd Bjarne
- Valle Laura
- Valle Laura
- Van de Vondel Liedewei
- Van de Vondel Liedewei
- van de Warrenburg Bart
- van de Warrenburg Bart
- van der Velde Joeri K.
- van der Vries Gerben
- van Os Nienke
- Vandrovcova Jana
- Vandrovcova Jana
- Varavallo Alessandra
- Veal Colin
- Verloes Alain
- Vissers Lisenka
- Vissers Lisenka E. L. M.
- Vitobello Antonio
- Vitobello Antonio
- Votypka Pavel
- Vyshka Klea
- Wadsley Marc
- Warren Greg
- Wayand Melanie
- Wilke Carlo
- Yaldiz Burcu
- Yaou Rabah Ben
- Zaharieva Irina
- Zurek Birte
- ’t Hoen Peter A. C.
- Publication venue
- Eur J Hum Genet
- Publication date
- 01/01/2021
- Field of study
Funder: EC | EC Seventh Framework Programm | FP7 Health (FP7-HEALTH - Specific Programme "Cooperation": Health); doi: https://doi.org/10.13039/100011272; Grant(s): 305444, 305444Funder: Ministerio de Economía y Competitividad (Ministry of Economy and Competitiveness); doi: https://doi.org/10.13039/501100003329Funder: Generalitat de Catalunya (Government of Catalonia); doi: https://doi.org/10.13039/501100002809Funder: EC | European Regional Development Fund (Europski Fond za Regionalni Razvoj); doi: https://doi.org/10.13039/501100008530Funder: Instituto Nacional de Bioinformática ELIXIR Implementation Studies Centro de Excelencia Severo OchoaFunder: EC | EC Seventh Framework Programm | FP7 Health (FP7-HEALTH - Specific Programme "Cooperation": Health)Reanalysis of inconclusive exome/genome sequencing data increases the diagnosis yield of patients with rare diseases. However, the cost and efforts required for reanalysis prevent its routine implementation in research and clinical environments. The Solve-RD project aims to reveal the molecular causes underlying undiagnosed rare diseases. One of the goals is to implement innovative approaches to reanalyse the exomes and genomes from thousands of well-studied undiagnosed cases. The raw genomic data is submitted to Solve-RD through the RD-Connect Genome-Phenome Analysis Platform (GPAP) together with standardised phenotypic and pedigree data. We have developed a programmatic workflow to reanalyse genome-phenome data. It uses the RD-Connect GPAP's Application Programming Interface (API) and relies on the big-data technologies upon which the system is built. We have applied the workflow to prioritise rare known pathogenic variants from 4411 undiagnosed cases. The queries returned an average of 1.45 variants per case, which first were evaluated in bulk by a panel of disease experts and afterwards specifically by the submitter of each case. A total of 120 index cases (21.2% of prioritised cases, 2.7% of all exome/genome-negative samples) have already been solved, with others being under investigation. The implementation of solutions as the one described here provide the technical framework to enable periodic case-level data re-evaluation in clinical settings, as recommended by the American College of Medical Genetics
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases.
- Author
- Alexander Elizabeth
- Allamand Valérie
- Aretz Stefan
- Atalaia Antonio
- Baets Jonathan
- Balicza Peter
- Banfi Sandro
- Banka Siddharth
- Beeson David
- Beijer Danique
- Beltran Sergi
- Beltran Sergi
- Benetti Elisa
- Bettolo Chiara Marini
- Bonne Gisèle
- Brookes Anthony J.
- Bros-Facer Virginie
- Bruel Ange-Line
- Brunner Han
- Brunner Han G.
- Bullich Gemma
- Capella Gabriel
- Carneiro Fátima
- Castello Raffaele
- Ciolfi Andrea
- Clayton-Smith Jill
- Coarelli Giulia
- Cohen Enzo
- Corvo Alberto
- Cossins Judith
- Costa Alessia
- Cruz Pedro M. Rodriguez
- 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 García
- de Voer Richarda M.
- de Voer Richarda M.
- Delgado Beatriz Martínez
- Demidov German
- Denommé-Pichon Anne-Sophie
- Dizjikan Farid Yavari
- Drunat Séverine
- Duffourd Yannis
- Durr Alexandra
- Ellwanger Kornelia
- Ellwanger Kornelia
- Evangelista Teresinha
- Eymard Bruno
- Faivre Laurence
- Ferlini Alessandra
- Fernandes Susana
- Fernandez-Callejo Marcos
- Ferreira Marta
- Ferreira Pedro
- Franková Vera
- Garcia Carles
- Garrido Luzia
- Gibson Spencer
- Gilissen Christian
- Graessner Holm
- Guillot-Noel Léna
- Gullo Irene
- Gumus Gulcin
- Gumus Gulcin
- Gut Ivo Glynne
- Haack Tobias B.
- Hackman Peter
- Hanauer Marc
- Hanna Mike
- Harmuth Tina
- Havlovicová Markéta
- Havrylenko Svitlana
- Heinzmann Anna
- Hengel Holger
- Hernández Carles
- Herzog Rebecca
- Heutink Peter
- Hoischen Alexander
- Holinski-Feder Elke
- Hoogerbrugge Nicoline
- Horvath Rita
- Houlden Henry
- Izem Katia
- Jackson Adam
- Janssen Erik
- Johansson Lennart
- Johari Mridul
- José Celina São
- Kamsteeg Erik-Jan
- Keane Thomas
- Kessler Christoph
- Kleefstra Tjitske
- Kremlik Vlastimil
- Kremliková Radka Pourová
- Köhler Sebastian
- Lagorce David
- Laner Andreas
- Laurie Steven
- Laurie Steven
- Lochmüller Hanns
- Lochmüller Hanns
- Lohmann Katja
- Macaya Alfons
- Macek Milan
- Marcé-Grau Anna
- Martín Estrella López
- Matalonga Leslie
- Matalonga Leslie
- Matos Ana Rita
- Maver Ales
- Mehtarizadeh Mehdi
- Metay Corinne
- Metcalfe Alison
- Molnar Maria Judit
- Morleo Manuela
- Muntoni Francesco
- Musacchia Francesco
- Münchau Alexander
- Neerincx Pieter B.
- Nelson Isabelle
- Neri Marcella
- Nigro Vincenzo
- Oliveira Carla
- Olry Annie
- Osorio Andres Nascimiento
- Ossowski Stephan
- Papakonstantinou Anastasios
- Paramonov Ida
- Parkinson Helen
- Patch Christine
- Pauly Martje
- Pelaez Jose Garcia
- Peterlin Borut
- Peters Sophia
- Peyron Christine
- Picó Daniel
- Piluso Giulio
- Pinelli Michele
- Piscia Davide
- Pizzi Simone
- Polavarapu Kiran
- Pélissier Aurore
- Radio Francesca Clementina
- Rath Ana
- Reilly Mary
- Renieri Alessandra
- Riaz Umar
- Riess Olaf
- Rigour Fanny
- Robert Glenn
- Robinson Peter
- Roelofs-Prins Dieuwke
- Rooryck Caroline
- Rossi Rachele
- Rump Andreas
- Sablauskas Karolis
- Sarkozy Anna
- Savarese Marco
- Scheffer Hans
- Schröck Evelin
- Schulze-Hentrich Julia M.
- Schöls Ludger
- Schüle Rebecca
- Selvatici Rita
- Senf Alexander
- Shorter Thomas
- Sommer Anna Katharina
- Spalding Dylan
- Specht Sabine
- Spier Isabel
- Steehouwer Marloes
- Steinke-Lange Verena
- Stevanin Giovanni
- Steyaert Wouter
- Stojkovic Tanya
- Straub Volker
- Sturm Marc
- Swertz Morris
- Swertz Morris A.
- Synofzik Matthis
- Sánchez Eva Bermejo
- Tartaglia Marco
- te Paske Iris
- Thauvin Christel
- Thomasová Dana
- Thompson Rachel
- Timmerman Vincent
- Tisserant Emilie
- Torella Annalaura
- Traschütz Andreas
- Trimouille Aurelien
- Turnovec Marek
- Töpf Ana
- Udd Bjarne
- Valle Laura
- Van de Vondel Liedewei
- van de Warrenburg Bart
- van der Velde Joeri K.
- van der Vries Gerben
- van Os Nienke
- Vandrovcova Jana
- Varavallo Alessandra
- Veal Colin
- Verloes Alain
- Verloes Alain
- Vissers Lisenka E. L. M.
- Vitobello Antonio
- Vitobello Antonio
- Wadsley Marc
- Warren Greg
- Wayand Melanie
- Wilke Carlo
- Yaldiz Burcu
- Yaou Rabah Ben
- Zaharieva Irina
- Zurek Birte
- Zurek Birte
- ’t Hoen Peter A. C.
- Publication venue
- Eur J Hum Genet
- Publication date
- 01/01/2021
- Field of study
For the first time in Europe hundreds of rare disease (RD) experts team up to actively share and jointly analyse existing patient's data. Solve-RD is a Horizon 2020-supported EU flagship project bringing together >300 clinicians, scientists, and patient representatives of 51 sites from 15 countries. Solve-RD is built upon a core group of four European Reference Networks (ERNs; ERN-ITHACA, ERN-RND, ERN-Euro NMD, ERN-GENTURIS) which annually see more than 270,000 RD patients with respective pathologies. The main ambition is to solve unsolved rare diseases for which a molecular cause is not yet known. This is achieved through an innovative clinical research environment that introduces novel ways to organise expertise and data. Two major approaches are being pursued (i) massive data re-analysis of >19,000 unsolved rare disease patients and (ii) novel combined -omics approaches. The minimum requirement to be eligible for the analysis activities is an inconclusive exome that can be shared with controlled access. The first preliminary data re-analysis has already diagnosed 255 cases form 8393 exomes/genome datasets. This unprecedented degree of collaboration focused on sharing of data and expertise shall identify many new disease genes and enable diagnosis of many so far undiagnosed patients from all over Europe
Solving unsolved rare neurological diseases-a Solve-RD viewpoint.
- Author
- Alexander Elizabeth
- Allamand Valérie
- Aretz Stefan
- Atalaia Antonio
- Baets Jonathan
- Balicza Peter
- Balicza Peter
- Banfi Sandro
- Banka Siddharth
- Beeson David
- Beltran Sergi
- Beltran Sergi
- Benetti Elisa
- Bettolo Chiara Marini
- Bevot Andrea
- Bonne Gisèle
- Brookes Anthony J.
- Bros-Facer Virginie
- Bruel Ange-Line
- Brunner Han
- Bullich Gemma
- Capella Gabriel
- Carneiro Fátima
- Castello Raffaele
- Chinnery Patrick
- Ciolfi Andrea
- Clayton-Smith Jill
- Coarelli Giulia
- Cohen Enzo
- Corvo Alberto
- Cossins Judith
- Costa Alessia
- Cruz Pedro M. Rodriguez
- 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 García
- de Voer Richarda M.
- Delgado Beatriz Martínez
- Demidov German
- Denommé-Pichon Anne-Sophie
- Dizjikan Farid Yavari
- Drunat Séverine
- Duffourd Yannis
- Durr Alexandra
- Dürr Alexandra
- Ellwanger Kornelia
- Erasmus Corrie E.
- Evangelista Teresinha
- Eymard Bruno
- Faivre Laurence
- Ferlini Alessandra
- Fernandes Susana
- Fernandez-Callejo Marcos
- Ferreira Marta
- Ferreira Pedro
- Franková Vera
- Garcia Carles
- Garrido Luzia
- Gibson Spencer
- Gilissen Christian
- Graessner Holm
- Graessner Holm
- Guillot-Noel Léna
- Gullo Irene
- Gumus Gulcin
- Gut Ivo Glynne
- Haack Tobias
- Hackman Peter
- Hanauer Marc
- Hanna Mike
- Havlovicová Markéta
- Havrylenko Svitlana
- Heinzmann Anna
- Hengel Holger
- Hernández Carles
- Herzog Rebecca
- Heutink Peter
- Hoischen Alexander
- Holinski-Feder Elke
- Hoogerbrugge Nicoline
- Horvath Rita
- Horvath Rita
- Houlden Henry
- Houlden Henry
- Izem Katia
- Jackson Adam
- Janssen Erik
- Johansson Lennart
- Johari Mridul
- José Celina São
- Kamsteeg Christoph
- Kamsteeg Erik-Jan
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- Kleefstra Tjitske
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- Kremliková Radka Pourová
- Köhler Sebastian
- Lagorce David
- Laner Andreas
- Laurie Steven
- Laurie Steven
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- Lochmüller Hanns
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- Lohmann Katja
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- Macaya Alfons
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- Marcé-Grau Anna
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- Matalonga Leslie
- Matos Ana Rita
- Maver Ales
- Maver Ales
- Mehtarizadeh Mehdi
- Metay Corinne
- Metcalfe Alison
- Molnar Judit
- Molnar Maria Judit
- Morleo Manuela
- Muntoni Francesco
- Musacchia Francesco
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- Münchau Alexander
- Neerincx Pieter B.
- Nelson Isabelle
- Neri Marcella
- Nigro Vincenzo
- Oliveira Carla
- Olry Annie
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- Ossowski Stephan
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- Peterlin Borut
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- Schröck Evelin
- Schulze-Hentrich Julia M.
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- Schöls Ludger
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- Schüle Rebecca
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- Senf Alexander
- Shorter Thomas
- Sommer Anna Katharina
- Spalding Dylan
- Specht Sabine
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- Steehouwer Marloes
- Steinke-Lange Verena
- Stevanin Giovanni
- Steyaert Wouter
- Stojkovic Tanya
- Straub Volker
- Sturm Marc
- Swertz Morris A.
- Synofzik Matthis
- Synofzik Matthis
- Sánchez Eva Bermejo
- Tartaglia Marco
- Thauvin Christel
- Thomasová Dana
- Thompson Rachel
- Timmann Dagmar
- Timmerman Vincent
- Tisserant Emilie
- Torella Annalaura
- Trimouille Aurelien
- Turnovec Marek
- Töpf Ana
- Udd Bjarne
- Valle Laura
- van de Warrenburg Bart
- van de Warrenburg Bart
- van der Velde Joeri K.
- van der Vries Gerben
- van Os Nienke
- Vandrovcova Jana
- Vandrovcova Jana
- Varavallo Alessandra
- Veal Colin
- Verloes Alain
- Vissers Lisenka E. L. M.
- Vitobello Antonio
- Wadsley Marc
- Warren Greg
- Wayand Melanie
- Wayand Melanie
- Wilke Carlo
- Wilke Carlo
- Yaldiz Burcu
- Yaou Rabah Ben
- Zaharieva Irina
- Zuchner Stephan
- Zurek Birte
- ’t Hoen Peter A. C.
- Publication venue
- Eur J Hum Genet
- Publication date
- 01/01/2021
- Field of study
Funder: Durch Princess Beatrix Muscle Fund Durch Speeren voor Spieren Muscle FundFunder: University of Tübingen Medical Faculty PATE programFunder: European Reference Network for Rare Neurological Diseases | 739510Funder: European Joint Program on Rare Diseases (EJP-RD COFUND-EJP) | 44140962
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
- Başak Ayşe Nazlı
- Beeson David
- Beijer Danique
- Beltran Sergi
- Benetti Elisa
- Bettolo Chiara Marini
- Bigoni Stefania
- Bijlsma Emilia K.
- Bonne Gisèle
- Bourbouli Mara
- Boztug Kaan
- Brookes Anthony J.
- Bros-Facer Virginie
- Bruel Ange-Line
- Brunner Han
- Bullich Gemma
- Cali Elisa
- Capella Gabriel
- Carneiro Fátima
- 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 García
- De Ridder Willem
- de Sainte Agathe Jean-Madeleine
- de Voer Richarda M.
- de Vries Geert
- De Winter Jonathan
- Delgado Beatriz Martínez
- Demidov German
- Denommé-Pichon Anne-Sophie
- Depienne Christel
- Depondt Chantal
- Dermaut Bart
- Deschauer Marcus
- Dizjikan Farid Yavari
- Doležalová Pavla
- Drunat Séverine
- 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
- Franková 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 Léna
- Gullo Irene
- Gumus Gulcin
- Gut Ivo Glynne
- Haack Tobias B.
- Hackman Peter
- Haimel Matthias
- Hambleton Sophie
- Hampstead Juliet
- Hanauer Marc
- Hanna Mike
- Havlovicová Markéta
- Heinzmann Anna
- Hemelsoet Dimitri
- Hengel Holger
- Hernández 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
- Kremliková Radka Pourová
- Kucuk Erdi
- Köhler Sebastian
- Lacombe Didier
- Lagorce David
- Lambros Mathioudakis
- Laner Andreas
- Laurie Steven
- Lebreton Emeline
- Lederer Damien
- Lerche Holger
- Lišková Petra
- Lochmüller Hanns
- Lochmüller Hanns
- Lohmann Katja
- Macaya Alfons
- Macek Milan
- Maddi Vatsalya
- Magrinelli Francesca
- Manera Jordi Diaz
- Marcé-Grau Anna
- Martín Estrella López
- Mary Sandrine
- Masó 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
- Münchau 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
- Picó Daniel
- Piluso Giulio
- Pinelli Michele
- Piscia Davide
- Pizzi Simone
- Polavarapu Kiran
- Poppe Bruce
- Pélissier 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
- Schüle 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
- Sánchez Eva Bermejo
- Tartaglia Marco
- te Paske Iris
- Thauvin Christel
- Thomas Coline
- Thomasová Dana
- Thompson Rachel
- Timmerman Vincent
- Torella Annalaura
- Traschütz 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 70× 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
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 García 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 Geneviève
- Başak Ayşe Nazlı
- Beeson David
- Beijer Danique
- Bellanger Séverine 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 Gisèle
- 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 Fátima
- 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 Véronica
- 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 Martínez
- 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
- Doležalová Pavla
- Doray Bérénice
- Drouin-Garraud Valérie
- Drunat Séverine
- 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 Mélanie
- Francannet Christine
- Franková Vera
- Freeberg Mallory
- Furini Simone
- Gaillard Dominique
- Gao Fei
- Gao Fei
- Garrido Luzia
- Geneviève 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 Léna
- Gullo Irene
- Gumus Gulcin
- Gut Ivo Glynne
- Gérard-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
- Havlovicová Markéta
- Heinzmann Anna
- Hemelsoet Dimitri
- Hengel Holger
- Hernández 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 Béatrice
- 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
- Kremliková Radka Pourová
- Köhler Sebastian
- Lacaze Elodie
- Lacombe Didier
- Lacombe Didier
- Laffargue Fanny
- Lagorce David
- Lambert Laëtitia
- Lambros Mathioudakis
- Laner Andreas
- Laudier Béatrice
- Laurie Steven
- Layet Valérie
- Lebreton Emeline
- Lederer Damien
- Lederer Damien
- Lehalle Daphné
- Leheup Bruno
- Leperrier Nathalie
- Lerche Holger
- Lespinasse James
- Li Shuang
- Lišková Petra
- Lochmüller Hanns
- Lochmüller Hanns
- Lohmann Katja
- Lyonnet Stanislas
- López-Martín Estrella
- Macaya Alfons
- Macek Milan
- Macek Milan
- Macek Milan
- Maddi Vatsalya
- Magrinelli Francesca
- Manera Jordi Diaz
- Marcé-Grau Anna
- Marlin Sandrine
- Martinovic Jelena
- Martín Estrella López
- Martín Estrella López
- Mary Sandrine
- Masurel Alice
- Masó Laura Batlle
- Matalonga Leslie
- Matalonga Leslie
- Matalonga Leslie
- Matalonga Leslie
- Mathieu Michèle
- 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 Sébastien
- Munell Francina
- Muntoni Francesco
- Musacchia Francesco
- Mutarelli Margherita
- Münchau 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
- Paul Carle
- Pauly Martje
- Pelaez Jose Garcia
- Perrin Laurence
- Perthus Isabelle
- Peterlin Borut
- Peters Sophia
- Petit Florence
- Peyron Christine
- Pfundt Rolph
- Phan Alice
- Philip Nicole
- Philippe Christophe
- Picó Daniel
- Piluso Giulio
- Pinelli Michele
- Pinelli Michele
- Pinson Lucile
- Piscia Davide
- Pizzi Simone
- Pizzi Simone
- Pizzi Simone
- Poirsier Céline
- Polavarapu Kiran
- Poppe Bruce
- Posada Manuel
- Posada Manuel
- Prieur Fabienne
- Putoux Audrey
- Pélissier Aurore
- Pérez-Dueñas Belén
- Quélin Chloé
- Radio Francesca C.
- Radio Francesca Clementina
- Radio Francesca Clementina
- Rath Ana
- Ratnaike Thiloka
- Reilly Mary
- Renaud Mathilde
- Renieri Alessandra
- 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
- Ruaud Lyse
- Ruivenkamp Claudia A.L.
- Rump Andreas
- Ruvolo David
- Ryba Lukas
- Ryba Lukas
- Sablauskas Karolis
- Safraou Hana
- Samimi Mahtab
- Sanlaville Damien
- Santen Gijs W.E.
- Sarda Pierre
- Sarkozy Anna
- Sarrazin Elisabeth
- Savarese Marco
- Savarese Marco
- Scala Marcello
- Schaefer Élise
- Scheffer Hans
- Schon Katherine
- Schröck Evelin
- Schuermans Nika
- Schulze-Hentrich Julia M.
- Schwarz Martin
- Schwarz Martin
- Schöls Ludger
- Schüle Rebecca
- Scudieri Paolo
- Selvatici Rita
- Shorter Thomas
- Sisodiya Sanjay M.
- Sommer Anna Katharina
- Sorlin Arthur
- Spalding Dylan
- Spier Isabel
- Spilioti Martha
- Spodenkiewicz Marta
- Steehouwer Marloes
- Steichen Elisabeth
- Steinke-Lange Verena
- Stevanin Giovanni
- Steyaert Wouter
- Steyaert Wouter
- Stojkovic Tanya
- Straub Volker
- Striano Pasquale
- Sturm Marc
- Swertz Morris A.
- Synofzik Matthis
- Sznajer Yves
- Sánchez 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
- Thomasová Dana
- Thompson Rachel
- Timmerman Vincent
- Torella Annalaura
- Torella Annalaura
- Touraine Renaud
- Toutain Annick
- Tran Mau-Them Frédéric
- Traschütz 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
- ‘t 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 “ClinVar low-hanging fruit” 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 “ClinVar low-hanging fruit” 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
Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries
- Author
- Abad-Motos Ane
- Abbas Ahmed M.
- Abbas Mostafa
- Abbasi Mujeeb
- Abbott Tom
- Abd Karim Muhammad Fairuz Shah
- Abdalaal Ibrahim
- Abdel-Galil Khalid
- Abdelemam Rania
- Abdelgawad Abdalrahman
- Abdelkarim Maryam
- Abdelkhalek Mohamed
- Abdelmageed Abdelfatah
- Abdelmawgoud Sherif
- Abdelmohsen Sarah
- Abdelrahman Ahmed Saber
- Abdelrahman Mostafa
- Abdelwahab Khaled
- Abdou Hossam
- Abdulai Darling Ramatu
- Abdulkhaleq Marwa
- Abdullah Bahiyah
- Abdulsalam Khalifa
- Abdulsalam Shuaib
- Abdur-Rahman Lukman
- Abdus-Salam Rukiyat
- Abdussalam Hameedat Opeyemi
- Abebrese John Tabiri
- Abeldaño Ariel
- Abou-Khalil Jad
- Abou-Taleb Hisham
- Abozid Anwaar
- Abozied Hesham
- Abrate Alberto
- Abu-Zaid Ahmed
- Abubakar Mohammed Kabir
- Abud Burçin
- Abuzaid Mohammed
- Adam Albushra Altayeb
- Adamina Michel
- Adamou Harissou
- Adamu Auwal
- Adamu Kabir Musa
- Adanu Kekeli
- Adebara Idowu
- Adebola Oluwaseyi
- Ademuyiwa Adesoji
- Adeniran Abiodun
- Adepiti Akinfolarin
- Aderogba Adeleke Akeem
- Adesunkanmi Abdulhafiz
- Adeyeye Ademola
- Adisa Adewale
- Adjeso Theophilus Justus Kofi
- Ads Adel Mohamed
- Ads Alaa Mohamed
- Adu-Aryee Nii Armah
- Adumah Collins
- Afzal Irrum
- Agapov Mikhail
- Agarwal Gaurav
- Agarwal Ravi
- Agbeko Anita Eseenam
- Agbeno Evans Kofi
- Agbonrofo Peter
- Agboola Oluseyi
- Aggarwal Gaurav
- Aghadi Ifeanyi
- Aghtarafi Natasha
- Agrawal Amit
- Agresta Ferdinando
- Aguado Héctor J.
- Aguilera-Arevalo Maria-Lorena
- Aherne Thomas
- Ahmad Aline
- Ahmad Maleeha
- Ahmad Misbahu
- Ahmad Sarwat
- Ahmad Shahzaib
- Ahmad Shoaib
- Ahmed Hayat Tarig Abdelhafiz
- Ahmed Khalid
- Ahmed Sharwany
- Ahmed Shima
- Ahmed Usama
- Aisuodionoe-Shadrach Oseremen
- Aitken Sarah
- Ajenifuja Kayode
- Ajiya Abdulrazak
- Akeel Nouf
- Akin Emrah
- Akinajo Opeyemi
- Akinyemi Tosin
- Akrida Ioanna
- Aktokmakyan Talar Vartanoglu
- Akwaisah Ayoub
- Al Bettar Osama
- Al-Badawi Ismail A.
- Al-Juaifari Maytham
- Al-Khyatt Waleed
- Al-Mallah Abdullah
- Al-Nusairi Ahmed
- Al-Saadi Nina
- Al-Sayaghi Khaled
- Al-Shaiji Tariq
- Al-Shehari Mohammed
- Al-Touny Aiman
- Al-Touny Shimaa A.
- Aladawi Omar
- Aladna Abdallah
- Alali Mahmoud
- Alam Mahmood
- Alam Mohammed Shadrul
- Alarabi Rehab
- Alawneh Yazan
- Alayande Barnabas
- Albanese Erminia
- Albayadi Eslam
- Albdour Maram
- Alconchel Felipe
- Alderazi Amer
- Alegbeleye Bamidele
- Alekberli Tural
- Alemu Misganaw Alemu Adimass
- Alexander Philip
- Alfieri Alex
- Algahtany Khaled
- Algarni Kamal
- Alhamad Ameen
- Alhamid Mohammad
- Alharmi Rawan A. Rahman
- Alharthi Mohammed
- Alhazmi Barrag
- Ali Mohamed Shafi Mahboob
- Ali Stephen
- Alibrahim Hidar
- Aljaaly Hattan
- Aljaiuossi Anas
- Aljanadi Firas
- Aljiffry Murad
- Aljirdabi Noof
- Alkahlan Mohammed
- Alkhalifa Elmustafa
- Alkhatib Sondos
- Alkhatieb Maram
- Allan Anna
- Almarshad Felwa
- Almgla Naser
- Almhimid Ali
- Almiqlash Bushray
- Almoshantaf Mohammad Badr
- Almutairi Abdulmjeed
- Alnsour Abed Alfattah Mahmoud
- Alobied Majd
- Alomar Osama
- Alonso Jesús Aarón Martínez
- Alonso Manuel Diez
- Alonso Nestor Fabian Pedraza
- Alonso Veronica
- Alqallaf Abdullah
- Alqaseer Asma
- Alrayes Bourhan
- Alsefri Maryam
- Alser Osaid
- Alsharif Mohammed
- Alsori Mohamed
- Altaf Abdulmalik
- Altinel Yuksel
- Altiner Saygin
- Altouny Ahmad
- Altun Demet
- Alvarez Natalia
- Alvarez-Lozada Luis Adrian
- Alvi Abdul
- Alwael Athari
- Alwash Mohammed
- Alyami Ziyad
- Alyousef Mohammed
- Alzahrani Saud
- Alzerwi Nasser
- Amin Shivang
- Amir Mohammed
- Ammar Ahmed Siddique
- Ammendola Michele
- Amores Remedios Revilla
- Amrayev Sultan
- Anastasiadou Sofia
- Ancans Guntis
- Anderson Caroline
- Andreani Lorenzo
- Andreotti Dario
- Andreuccetti Jacopo
- Andrianakis Alexandros
- Andro Christophe
- Anesi Alexandre
- Angamuthu Stephen
- Angeles Martina Aida
- Angelico Roberta
- Angelis Fragkiskos
- Angelou Dimitrios
- Angelou Kyveli
- Angulo Victor Pinto
- Anjum Arfa
- Anjum Muhammad Ayyub
- Annicchiarico Alfredo
- Anoldo Pietro
- Ansaloni Luca
- Anthoulakis Christos
- Antonelli Amedeo
- Anwar Mohamed
- Anwar Sumadi Lukman
- Anwer Mariyah
- Anyanwu Lofty-John
- Apostolou Christos
- Apostolou Konstantinos
- Appiah-Kubi Adu
- Aprea Giovanni
- Arbab Hana
- Archer James
- Ardura Francisco
- Aremu Muyiwa
- Arif Tahera
- Arkani Samara
- Armatura Giulia
- Armijos Daniel
- Arnaout Ali
- Arnaoutoglou Eleni
- Arnaud Alexis P.
- Arneja Jugpal
- Arrangoiz Rodrigo
- Arshad Muhammad
- Arthur Joshua
- Ashcroft James
- Ashford Bruce
- Ashraf Fariha
- Asiimwe Daniel
- Asirifi Samuel Amoako
- Asla Amir
- Aslam Ramisha
- Aspide Raffaele
- Ataya Karim
- Ateca Ibabe Villalabeitia
- Atici Semra Demirli
- Atis Gokhan
- Atkins William
- Atkinson Kate
- Attwood Joseph
- Auerkari Aino
- Augestad Knut Magne
- Augustin Goran
- Aujayeb Avinash
- Avella Pasquale
- Awad Ahmed K.
- Awad Hadeel
- Awad Rabih
- Awad Selmy
- Ayad Kusay
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- Aydin Yener
- Ayeni Funbi
- Aytac Erman
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- Azami Rizwan
- Azize Diallo Abdoul
- Azzam Ahmed Y.
- Azzis Olivier
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- Baia Marco
- Baidoo Ebikela Ivie
- Bailey Karen
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- Bains Lovenish
- Baiocchi Gian Luca
- Baiocchi Glauco
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- Balagobi Balasingam
- Balasubramanian Ishwarya
- Balduzzi Alberto
- Baldwin Alexander
- Balla Andrea
- Balogh Zsolt J.
- Balogun James A.
- Balogun Simon
- Baloyiannis Ioannis
- Ban Vin Shen
- Bandyopadhyay Samik Kumar
- Bandyopadhyay Soham
- Banerjee Sumit
- Banipal Gurpreet Singh
- Banky Balazs
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- Barlow Ciaran
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- Barranquero Alberto G.
- Barugola Giuliano
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- Beamish Andrew
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- Bedada Alemayehu Ginbo
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- Benamar Safia
- Bence Matthew
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- Bergkvist David Julià
- Beristain-Hernandez Jose-Luis
- Bernante Paolo
- Bernardi Daniele
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- Berselli Bruno
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- Beswick Daniel
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- Bharathan Rasiah
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- Boligo Sofia
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- Bombardini Cristina
- Bonavina Luigi
- Bonci Eduard-Alexandru
- Bondurri Andrea
- Bonilla Antonio Ramos
- Bonsaana Gilbert Batieka
- Booth L.
- Borg Elaine
- Borges Miguel Fróis
- Borges Nuno
- Bork Ulrich
- Borselle Dominika
- Bortul Marina
- Botelho Pedro
- Bottari Andrea
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- Bouliaris Konstantinos
- Bowan Antoinette Bediako
- Bowen Joel
- Bozbiyik Osman
- Bracale Umberto
- Brachini Gioia
- Bramis Konstantinos
- Branagan Graham
- Branzan Daniela
- Brasset Camille
- Bratus Dejan
- Bravo Ana Maria Minaya
- Bravo Sybil Lizanne
- Bright Tim
- Brisinda Giuseppe
- Brodkin Edgar
- Broglia Alessandro
- Brolese Alberto
- Browning Rebecca
- Bruzzaniti Placido
- Brzeszczyński Filip
- Bsisu Isam
- Bua Emmanuel
- Budd Gabrielle
- Bukhari Syed Imran
- Bulian Dirk Rolf
- Bumbasirevic Uros
- Bumber Boris
- Burgos-Blasco Barbara
- Burlov Nikita
- Bussu Francesco
- Bàmbina Fabrizio
- Börner Nikolaus
- Böttcher Arne
- Cabeza Leticia
- Cabrera Marino
- Cais Simon
- Cakmak Guldeniz Karadeniz
- Calabretto Francesca
- Calabrò Marcello
- Calavia Pablo
- Calculli Federica
- Calini Giacomo
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- Callcut Rachael
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- Cama Jitoko
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- Campuzano Nicolas
- Cano-Trigueros Emiliano
- Capella Stefano
- Capitan-Morales Luis-Cristobal
- Capobianco Mattia
- Capolupo Gabriella Teresa
- Capozzi Enrico
- Cappuccio Micaela
- Capuano Marianna
- Carannante Filippo
- Carbone Fabio
- Carbone Ludovico
- Caretto Marta
- Caricato Chiara
- Caricato Marco
- Carpenter Holly
- Carreras-Castañer Anna
- Carretero Manuel Moriche
- Caruana Edward J.
- Carvello Michele
- Casagranda Biagio
- Cassese Gianluca
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- Cole Simon
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- Colombari Renan Carlo
- Colombo Francesco
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- Croghan Stefanie M.
- Cross George W. V.
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- De Jesus Labrador Hernandez Gregorio
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- De Pastena Matteo
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- Dean Yomna
- Degarege Dawit
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- Demetriades Andreas K
- Demetriou Charis
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- Djedovic Gabriel
- Doerner Johannes
- Doherty Daniel
- Dolci Giampiero
- Domanin Maurizio
- Domingo Marta María Arroyo
- Dominguez-Rosado Ismael
- Don Cristine Pathirannehalage
- Donkin Ian
- Donmez Emin Erhan
- Donoghue Sophie
- Donovan Richard
- Dornseifer Mamun David
- Dorovinis Panagiotis
- Douglas Deborah
- Downey Candice
- Doyle Alex
- Doǧan Lütfi
- Dragisic Vedran
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- Duffy Caoimhe
- Dulskas Audrius
- Dunne Ben
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- Dyas Adam
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- Dziakova Jana
- Dzogbefia Mawutor
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- Dölker Theresa
- Eardley Nicola
- Ebrahim Abdulla
- Echieh Chidiebere Peter
- Edwards John
- Efetov Sergey
- Efremov Sergey
- Egan Richard
- Eiras Miguel Angel Freiria
- Eisa Elamin
- Ekor Oluwayemisi
- Ekwen Gerald
- Ekwunife Okechukwu Hyginus
- El Assaad Hadi
- El Boghdady Michael
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- El-Hussuna Alaa
- El-Kassas Mohamed
- Elagili Ahmed
- Elahi Zain
- Elbadawy Merihan A.
- Elbahnasawy Mohamed
- Elbe Peter
- Elboraei Rahma
- Eldabaa Mohamed
- Elebute Olumide
- Elfeki Hossam
- Elfiky Mahmoud
- Elgazar Amr
- Elghadban Hosam
- Elhadi Muhammed
- Elhassan Wael Atif Fadl
- Elkazaz Ahmed
- Ellafi Amera Ali Dakheel
- Elliot R.
- Elnour Moheyaldien Ahmed Elamin
- Elsadek Menan
- Elsahli Saifaleslam
- Elsalhawy Shady
- Elsayem Karam
- Elshahawy Mahmoud Abdelaziz Mohamed
- Elsherbiny Ahmed
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- Escobedo Francisco Jose Barbosa
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- Ezanno Anne-Cecile
- Ezeanochie Michael
- Ezeme Constantine
- Ezenwa Ekene
- Ezomike Uchechukwu
- Fadalla Tarig
- Fadel Zahir T
- Fahim Margo Medhat Fouad
- Fahmy Ali
- Faiz Javaria
- Fajardo Rafael Torres
- Fakhradiyev Ildar
- Fallah Jean-Michel
- Familiari Pietro
- Fang Clarissa Ern Hui
- Faponle Folayemi
- Farhan-Alanie Muhamed
- Farid Shahzaib
- Farooq Muhammad
- Fatima Mishal
- Fayad Elsayed A.
- Federer Simon
- Federico Nicoletta Sveva Pipitone
- Feeney Kaylem
- Fehervari Matyas
- Fekaj Enver
- Fernandez Laura Gomez
- Fernández Julio Domenech
- Ferracci Federica
- Ferrara Francesco
- Ferrari Davide
- Ferrario Luca
- Ferreli Fabio
- Ferrer Antonio Perez
- Ferrer Ursula María Jariod
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- Wong Benjamin Ngie Xiong
- Wong Enoch
- Wong Evan G.
- Wong George Kwok Chu
- Wong Ho Ying Flora
- Wong Kai Yuen
- Wormald Justin
- Wright Deborah
- Wright Joshua
- Wu Fiona
- Wurm Markus
- Xenaki Sofia
- Yadev Ip
- Yahaya Ahmad Shuib
- Yakubu Mustapha
- Yang Wah
- Yanik Özge
- Yanowsky-Reyes Guillermo
- Yassin Abubaker
- Yates Elizabeth
- Yebes Alvaro
- Yenli Edwin Mwintiereh Ta-Ang
- Yeoh Tien
- Yeung Justin
- Yiallourou Anneza
- Yigit Banu
- Yildirim Asif
- Yim Guang
- Yiu Andrew
- Yonekura Hiroshi
- Yotsov Tsanko
- Younis Muhammad Umar
- Yunus Alif
- Yusefi Hossein
- Zabaleta Jon
- Zabkiewicz Catheriner
- Zaccaria Giulia
- Zacharia Bincy
- Zafar Syed Nabeel
- Zago Mauro
- Zaheen Zakia
- Zahid Zahra
- Zaimis Tilemachos
- Zakaria Andee Dzulkarnaen
- Zambon Martina
- Zamora Lindsey
- Zampogna Biagio
- Zancana Giuseppa
- Zani Augusto
- Zanin Luca
- Zanini Nicola
- Zapardiel Ignacio
- Zapata Carlos Shiraishi
- Zarif Pierre
- Zaránd Attila
- Zehnder Philipp
- Zenger Serkan
- Zenha Horácio
- Zhu Michael Z. L.
- Ziemann Sebastian
- Zimak Danijela Mrazovac
- Zimak Zoran
- Zivkovic Dragana
- Zizzo Maurizio
- Zucker Benjamin
- Zwain Yasir
- Zyskowski Michael
- Ávila Clara Castro
- Älgå Andreas
- Çakici Mehmet Çaǧlar
- Çelik Enes
- Çelik Meryem Nur
- Özçay Necdet
- Şevik Hüsnü
- Šantak Goran
- Šimko Kristián
- Žatecký Jan
- Publication venue
- 'Oxford University Press (OUP)'
- Publication date
- 01/01/2023
- Field of study
Abstract
Background
Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres.
Methods
This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries.
Results
In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia.
Conclusion
This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries
Underlying Event measurements in pp collisions at s=0.9 and 7 TeV with the ALICE experiment at the LHC
- Author
- A Buckley
- A Capella
- A. Kurepin
- A.B. Kurepin
- A.K. Dutta Majumdar
- Abdiel Ramirez Reyes
- Adam Ryszard Kisiel
- Adam Tomasz Matyja
- Adam Wlodzimierz Jacholkowski
- Aditya Nath Mishra
- Adrian Sevcenco
- Adriana Telesca
- Airton Deppman
- Ajay Kumar Dash
- Ajit Kumar Mohanty
- AK Aamodt
- Alain Baldit
- Alain Michalon
- Alberica Toia
- Alberto Baldisseri
- Alberto Gago
- Alberto Masoni
- Alberto Pulvirenti
- Alejandro Szanto de Toledo
- Alessandra Fantoni
- Alessandra Maria Mazzoni
- Alessandro De Falco
- Alessandro Ferretti
- Alessandro Grelli
- Alessandro Pesci
- Alexander Akindinov
- Alexander Borissov
- Alexander Hansen
- Alexander Kluge
- Alexander Mamonov
- Alexander Nedosekin
- Alexander Ochirov
- Alexander Philipp Kalweit
- Alexander Vinogradov
- Alexander Vodopianov
- Alexander Wilk
- Alexandr Tumkin
- Alexandre Alarcon do Passo Suaide
- Alexandre Nyanin
- Alexandre Rachevski
- Alexandre Shabetai
- Alexandru Bercuci
- Alexandru Florin Dobrin
- Alexei Kaidalov
- Alexei Khanzadeev
- Alexei Pavlinov
- Alexey Bogdanov
- Alexey Kuryakin
- Alexey Vyushin
- Alexis Jean-Michel Mas
- Alfredo Musso
- Alice Zimmermann
- Alina Gabriela Grigoras
- Alla Maevskaya
- Alphonse Rademakers
- Amalia Pop
- Amaya Ofelia Casanova Diaz
- Ana Maria Marin
- Anand Kumar Dubey
- Anatoly Fedunov
- Anatoly Kolojvari
- Anders Nils Erik Oskarsson
- Andras Gabor Agocs
- Andre Augustinus
- Andre Mischke
- Andrea Agostinelli
- Andrea Alici
- Andrea Dainese
- Andrea Danu
- Andrea De Azevedo Moregula
- Andrea Rossi
- Andreas Arend
- Andreas Morsch
- Andrei George Gheata
- Andrei Ionut Herghelegiu
- Andres Sandoval
- Andrew Marshall Adare
- Andrey Ivanov
- Andrey Kazantsev
- Andrey Korneev
- Andrey Reshetin
- Andrey Vasiliev
- Andrey Zarochentsev
- Andry Malala Rakotozafindrabe
- Andrzej Deloff
- Andrzej Rybicki
- Andzhey Asryan
- Angela Badala
- Anik Gupta
- Anitha Nyatha
- Anju Bhasin
- Ankita Goswami
- Anna Piccotti
- Anna Rita Reolon
- Annalisa De Caro
- Annalisa Mastroserio
- Annika Passfeld
- Anselmo Margotti
- Ante Bilandzic
- Anthony Timmins
- Antoine Xavier Lardeux
- Anton Alkin
- Anton Andronic
- Anton Jusko
- Antonin Maire
- Antonino Zichichi
- Antonio Di Mauro
- Antonio Juan Rubio Montero
- Antonio Ortiz Velasquez
- Antonio Uras
- Ara Grigoryan
- Arian Abrahantes Quintana
- Armando Palmeri
- Arnulfo Martinez Davalos
- Arsen Hayrapetyan
- Arshad Ahmad
- Artem Konevskih
- Artur Krzysztof Szostak
- Arturo Alejandro Menchaca-Rocha
- Arturo Fernandez Tellez
- Arturo Tauro
- Arvinder Singh Palaha
- Ashok Kumar Bhati
- Aurora Diozcora Vargas
- Ayben Karasu Uysal
- B Andersson
- Baba Potukuchi
- Barbara Guerzoni
- Barthelemy von Haller
- Basanta Kumar Nandi
- Bastian Bathen
- Bedangadas Mohanty
- Benjamin Donigus
- Beomkyu Kim
- Beomsu Chang
- Bernard Hicks
- Bernd Stefan Windelband
- Bernhard Skaali
- Betty Abelev
- Bikash Sinha
- Bjarte Kileng
- Bjorn Steven Nilsen
- Blahoslav Pastircak
- Bogdan Theodor Rascanu
- Bogdan Vulpescu
- Borge Svane Nielsen
- Boris Batyunya
- Boris Grinyov
- Boris Hippolyte
- Boris Polichtchouk
- Boris Wagner
- Branislav Sitar
- Brigitte Cheynis
- Brijesh Kumar Srivastava
- Bruno Alessandro
- Bruno Alexandre Boyer
- Bruno Espagnon
- Bruno Ghidini
- Byounghee Han
- Camilo Andres Carrillo Montoya
- Camilo Ernesto Lara
- Carlos Albert Salgado
- Carlos Eugenio Perez Lara
- Carlos Pajares
- Carmelo Di Giglio
- Carsten Sogaard
- Casper Nygaard
- Catia Petta
- Cenek Zach
- Cesar Guerra Gutierrez
- Chamath Kottachchi Kankanamge Don
- Chiara Bianchin
- Chiara Oppedisano
- Chiara Zampolli
- Christelle Sophie Roy
- Christian Claude Kuhn
- Christian Holm Christensen
- Christian Joachim Schmidt
- Christian Klein-Bosing
- Christian Lippmann
- Christina Markert
- Christine Nattrass
- Christoph Blume
- Christoph Heinrich Baumann
- Christoph Mayer
- Christophe Furget
- Christophe Pierre Suire
- Christopher Daniel Anson
- Christos Tagridis
- Cinzia Luzzi
- Ciprian Mihai Mitu
- Claude Andre Pruneau
- Claudio Bortolin
- Claudio Geuna
- Claudiu Cornel Schiaua
- Constantinos Loizides
- Corrado Cicalo
- Costanza Cavicchioli
- Costin Grigoras
- Crispin Williams
- Cristian Andrei
- Cristian George Ivan
- Cristina Lazzeroni
- Cristina Terrevoli
- Csaba Soos
- Cvetan Cheshkov
- Cynthia Marie Hadjidakis
- Cyrano Bergmann
- D Acosta
- Dae Sung Hwang
- Dagmar Adamova
- Daicui Zhou
- Daniel Berenyi
- Daniel Felea
- Daniel Jesus Tapia Takaki
- Daniel Lohner
- Daniel Mayani
- Daniela Fabris
- Daniele De Gruttola
- Danilo Vranic
- Danthasinghe Piyarathna
- Dario Berzano
- Dariusz Miskowiec
- David Chinellato
- David Christopher Truesdale
- David Evans
- David Olle Rickard Silvermyr
- David Philip Emschermann
- David Rohr
- David Tlusty
- Davide Caffarri
- Davide Falchieri
- Davide Perrino
- Debasish Das
- Deepa Thomas
- Deepika Rathee
- Denise Aparecida Moreira De Godoy
- Despoina Hatzifotiadou
- Dhevan Raja Gangadharan
- Diego Perini
- Diego Stocco
- Dieter Rohrich
- Dilan Minthaka Madagodahettige-Don
- Dmitri Ivanovich Patalakha
- Dmitri Peresunko
- Dmitry Aleksandrov
- Dmitry Blau
- Dmitry Budnikov
- Dmitry Finogeev
- Dmitry Mal’Kevich
- Do Won Kim
- Domenico Colella
- Domenico Di Bari
- Domenico Elia
- Dominik Fehlker
- Don Constantin Vernekohl
- Dong Jo Kim
- Dong Wang
- Dosatsu Sakata
- Dumitru Hasegan
- Durga Prasad Mahapatra
- Edgar Perez Lezama
- Edith Zinhle Buthelezi
- Edmundo Garcia-Solis
- Eduardo Del Castillo Sanchez
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