37 research outputs found
Raising St. Louis Evaluation Report
- Publication venue
- Washington University Open Scholarship
- Publication date
- 01/01/2016
- Field of study
This report presents 2016 evaluation findings from the Raising St. Louis initiative. Raising St. Louis connects with mothers, fathers and other family members to help build and sustain the family unit, reduces the high infant mortality rate, promotes literacy, and increases access to health care.https://openscholarship.wustl.edu/cphss/1061/thumbnail.jp
Discrete-time Calogero-Moser system and Lagrangian 1-form structure
- Author
- Publication venue
- 'IOP Publishing'
- Publication date
- 03/02/2011
- Field of study
We study the Lagrange formalism of the (rational) Calogero-Moser (CM) system,
both in discrete time as well as in continuous time, as a first example of a
Lagrange 1-form structure in the sense of the recent paper [19]. The
discrete-time model of the CM system was established some time ago arising as a
pole-reduction of a semi-discrete version of the KP equation, and was shown to
lead to an exactly integrable correspondence (multivalued map). In this paper
we present the full KP solution based on the commutativity of the discrete-time
flows in the two discrete KP variables. The compatibility of the corresponding
Lax matrices is shown to lead directly to the relevant closure relation on the
level of the Lagrangians. Performing successive continuum limits on both the
level of the KP equation as well as of the CM system, we establish the proper
Lagrange 1-form structure for the continuum case of the CM model. We use the
example of the three-particle case to elucidate the implementation of the novel
least-action principle, which was presented in [19], for the simpler case of
Lagrange 1-forms.Comment: 37 pages, 8 figure
Lagrangian multiforms and multidimensional consistency
- Author
- Publication venue
- 'IOP Publishing'
- Publication date
- 28/08/2009
- Field of study
We show that well-chosen Lagrangians for a class of two-dimensional
integrable lattice equations obey a closure relation when embedded in a higher
dimensional lattice. On the basis of this property we formulate a Lagrangian
description for such systems in terms of Lagrangian multiforms. We discuss the
connection of this formalism with the notion of multidimensional consistency,
and the role of the lattice from the point of view of the relevant variational
principle.Comment: 20 pages, typos corrected, submitted to the special issue on
"Symmetries and Integrability of Difference Equations" of J. Phys. A: Math.
Theo
Development and validation of a targeted gene sequencing panel for application to disparate cancers
- Author
- Aghmesheh Morteza
- Amor David
- Andrews Lesley
- Antill Yoland C.
- Armitage Shane
- Arnold Leanne
- Balleine Rosemary
- Bastik Patricia A.
- Beesley Jonathan
- Beilby John
- Bennett Ian
- Blackburn Anneke C.
- Bogwitz Michael R.
- Botes Leon P.
- Brennan Meagan
- Brown Melissa A.
- Buckley Michael
- Burgess Matthew J.
- Burke Jo
- Butow Phyllis
- Caldon Elizabeth
- Callen David F.
- Campbell Ian G.
- Chan Chialing
- Chauhan Deepa
- Chauhan Manisha
- Chenevix-Trench Georgia
- Christian Alice
- Cipponi Arcadi
- Clarke Christine L.
- Cohen Paul A.
- Colley Alison S.
- Crook Ashley
- Cui James
- Culling Bronwyn
- Cummings Margaret C.
- Dawson Sarah J.
- De Sousa Sunita M.
- DeFazio Anna
- Delatycki Martin B.
- Deng Niantao
- Dickson Rebecca
- Dixon Joanne W.
- Dobrovic Alexander
- Dudding Tracy
- Edkins Ted
- Edwards Stacey L.
- Eisenbruch Maurice
- et al .
- Farshid Gelareh
- Fellows Andrew
- Fenton Georgina
- Field Michael
- Flanagan James M.
- Fong Peter C.
- Forrest Laura
- Fox Stephen B.
- French Juliet D.
- Friedlander Michael
- Gaff Clara
- Gallego-Ortega David
- Gattas Michael R.
- Gauthier Marie-Emilie A.
- Gayevskiy Velimir
- George Peter M.
- Giles Graham G.
- Gill Grantley
- Grady John P.
- Greening Sian
- Haan Eric A.
- Harris Marion T.
- Hart Stewart
- Hayward Nicholas K.
- Heiniger Louise E.
- Hopper John L.
- Hunt Clare E.
- James Paul A.
- Jenkins Mark A.
- Johns Amber L.
- Kefford Rick F.
- Kidd Alexa M.
- Kirk Judy
- Koehler Jessica
- Kohonen-Corish Maija R.
- Kollias James
- Lakhini Sunil R.
- Lindeman Geoffrey J.
- Lipton Lara R.
- Lobb Liz
- Lord Reginald V.
- Mann Graham
- March Deborah J.
- McCabe Mark J.
- McLachaln Sue A.
- Meiser Bettina
- Milne Roger L.
- Nightingale Sophie S.
- O'Connell Shona
- O'Sullivan Sarah
- O'Toole Sandra A. (R17255)
- Pachter Nicholas S.
- Patterson Briony
- Phillips Kelly A.
- Pieper Ellen
- Puttick Clare
- Rickard Edwina
- Robinson Bridget
- Saleh Mona
- Salisbury Elizabeth
- Sambrook Joseph F.
- Saunders Christobel
- Saunus Jodi
- Scott Clare L.
- Scott Elizabeth
- Scott Rodney J.
- Sexton Adrienne C.
- Shelling Andrew N.
- Simpson Peter
- Southey Melissa C.
- Spurdle Amanda B.
- Swarbrick Alexander
- Tao Jiang
- Taylor Jessica A.
- Thomas Melissa L.
- Thompson Tanya J.
- Thorne Heather J.
- Trainer Alison H.
- Tucker Katherine
- Visvader Jane E.
- Walker Logan C.
- Williams Rachel A.
- Winship Ingrid
- Ying Kevin
- Young Mary A.
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2019
- Field of study
Next generation sequencing has revolutionised genomic studies of cancer, having facilitated the development of precision oncology treatments based on a tumour’s molecular profile. We aimed to develop a targeted gene sequencing panel for application to disparate cancer types with particular focus on tumours of the head and neck, plus test for utility in liquid biopsy. The final panel designed through Roche/Nimblegen combined 451 cancer-associated genes (2.01 Mb target region). 136 patient DNA samples were collected for performance and application testing. Panel sensitivity and precision were measured using well-characterised DNA controls (n = 47), and specificity by Sanger sequencing of the Aryl Hydrocarbon Receptor Interacting Protein (AIP) gene in 89 patients. Assessment of liquid biopsy application employed a pool of synthetic circulating tumour DNA (ctDNA). Library preparation and sequencing were conducted on Illumina-based platforms prior to analysis with our accredited (ISO15189) bioinformatics pipeline. We achieved a mean coverage of 395x, with sensitivity and specificity of >99% and precision of >97%. Liquid biopsy revealed detection to 1.25% variant allele frequency. Application to head and neck tumours/cancers resulted in detection of mutations aligned to published databases. In conclusion, we have developed an analytically-validated panel for application to cancers of disparate types with utility in liquid biopsy
Recommended from our members
Homologous recombination DNA repair defects in PALB2- associated breast cancers
- Author
- Aghmesheh Morteza
- Amor David
- Andrews Leslie
- Antill Yoland
- Balleine Rosemary
- Beesley Jonathan
- Bi Rui
- Blackburn Anneke
- Blecua Pedro
- Bogwitz Michael
- Boonen Susanne E.
- Brown David N.
- Brown Melissa
- Burgess Matthew
- Burke Jo
- Butow Phyllis
- Caldon Liz
- Campbell Ian
- Cavallone Luca
- Christian Alice
- Clarke Christine
- Cohen Paul
- Crook Ashley
- Cui James
- Cummings Margaret
- Dawson Sarah-Jane
- De Fazio Anna
- Delatycki Martin
- Dobrovic Alex
- Dudding Tracy
- Duijf Pascal
- Edkins Edward
- Edwards Stacey
- Farshid Gelareh
- Fellows Andrew
- Field Michael
- Flanagan James
- Fong Peter
- Forbes John
- Forrest Laura
- Foulkes William D.
- Fox Stephen
- French Juliet
- Friedlander Michael
- Gattas Michael
- Geyer Felipe C.
- Giles Graham
- Gill Grantley
- Gleeson Margaret
- Greening Sian
- Gularte-Mérida Rodrigo
- Haan Eric
- Harris Marion
- Hayward Nick
- Hickie Ian
- Hopper John
- Hunt Clare
- James Paul
- Janatova Marketa
- Jenkins Mark
- Kefford Rick
- Kentwell Maira
- Kirk Judy
- Kollias James
- Kumar Rahul
- Lakhani Sunil
- Lee Ju Youn
- Lee Simon S. K.
- Li Anqi
- Lindeman Geoff
- Lipton Lara
- Lobb Lizz
- Lok Sheau
- Looi Lai-Meng
- Lozada John R.
- Macrea Finlay
- Mann Graham
- Mannerma Arto
- Marsh Deb
- McLachlan Sue-Anne
- Meiser Bettina
- Milne Roger
- Ng Pei-Sze
- Nguyen-Dumont Tu
- Nightingale Sophie
- Norton Larry
- Ortega David Gallego
- O’Connell Shona
- Pachter Nick
- Pareja Fresia
- Patterson Briony
- Peterlongo Paolo
- Phillips Kelly
- Piscuoglio Salvatore
- Rajadurai Pathmanathan
- Reis-Filho Jorge S.
- Rezoug Zoulikha
- Rivera Barbara
- Robson Mark E.
- Rønlund Karina
- Saleh Mona
- Salisbury Elizabeth
- Saunders Christobel
- Saunus Jodi
- Scott Clare
- Scott Rodney
- Selenica Pier
- Sexton Adrienne
- Shelling Andrew
- Simpson Peter
- Soo-Hwang Teo
- Southey Melissa C.
- Spigelman Allan
- Spurdle Mandy
- Stone Jennifer
- Taylor Jessica
- Terkelsen Thorkild
- Thorne Heather
- Tischkowitz Marc
- Tondini Carlo
- Trainer Alison
- Trench Georgia
- Tucker Kathy
- Visvader Jane
- Walker Logan
- Wallis Mathew
- Weigelt Britta
- Wen Hannah Y.
- Williams Rachael
- Winqvist Robert
- Winship Ingrid
- Wu Kathy
- Xia Bing
- Young Mary Anne
- Publication venue
- npj Breast Cancer
- Publication date
- 07/08/2020
- Field of study
Abstract: Mono-allelic germline pathogenic variants in the Partner And Localizer of BRCA2 (PALB2) gene predispose to a high-risk of breast cancer development, consistent with the role of PALB2 in homologous recombination (HR) DNA repair. Here, we sought to define the repertoire of somatic genetic alterations in PALB2-associated breast cancers (BCs), and whether PALB2-associated BCs display bi-allelic inactivation of PALB2 and/or genomic features of HR-deficiency (HRD). Twenty-four breast cancer patients with pathogenic PALB2 germline mutations were analyzed by whole-exome sequencing (WES, n = 16) or targeted capture massively parallel sequencing (410 cancer genes, n = 8). Somatic genetic alterations, loss of heterozygosity (LOH) of the PALB2 wild-type allele, large-scale state transitions (LSTs) and mutational signatures were defined. PALB2-associated BCs were found to be heterogeneous at the genetic level, with PIK3CA (29%), PALB2 (21%), TP53 (21%), and NOTCH3 (17%) being the genes most frequently affected by somatic mutations. Bi-allelic PALB2 inactivation was found in 16 of the 24 cases (67%), either through LOH (n = 11) or second somatic mutations (n = 5) of the wild-type allele. High LST scores were found in all 12 PALB2-associated BCs with bi-allelic PALB2 inactivation sequenced by WES, of which eight displayed the HRD-related mutational signature 3. In addition, bi-allelic inactivation of PALB2 was significantly associated with high LST scores. Our findings suggest that the identification of bi-allelic PALB2 inactivation in PALB2-associated BCs is required for the personalization of HR-directed therapies, such as platinum salts and/or PARP inhibitors, as the vast majority of PALB2-associated BCs without PALB2 bi-allelic inactivation lack genomic features of HRD
The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer
- Author
- Aalfs Cora M.
- Adank Muriel A.
- Adenis Claude
- Adlard Julian
- Agata Simona
- Aghmesheh Morteza
- Agnarsson Bjarni A.
- Ahearn Thomas
- Aittomäki Kristiina
- Ambrosone Christine B.
- Amor David
- Andrews Lesley
- Andrulis Irene L.
- Antill Yoland
- Anton-Culver Hoda
- Antonenkova Natalia N.
- Antoniou Antonis C.
- Armitage Shane
- Arndt Volker
- Arnold Leanne
- Arnold Norbert
- Aronson Kristan J.
- Arun Banu K.
- Asseryanis Ella
- Auber Bernd
- Auvinen Päivi
- Azzollini Jacopo
- Balleine Rosemary
- Balmaña Judith
- Barkardottir Rosa B.
- Barnes Daniel R.
- Barouk-Simonet Emmanuelle
- Barrowdale Daniel
- Barwell Julian
- Bastick Patti
- Baurand Amandine
- Baxter Robert
- Beane Freeman Laura E.
- Beauparlant Charles Joly
- Beckmann Matthias W.
- Beesley Jonathan
- Behrens Sabine
- Beilby John
- Belotti Muriel
- Benitez Javier
- Bennett Ian
- Berger Raanan
- Bermisheva Marina
- Berthet Pascaline
- Bertolone Geoffrey
- Bertrand Ophélie
- Bignon Yves-Jean
- Birot Anne-Marie
- Blackburn Anneke
- Blanco Amie M.
- Blomqvist Carl
- Bogdanova Natalia V.
- Bogliolo Massimo
- Bogwitz Michael
- Bojesen Anders
- Bojesen Stig E.
- Bolla Manjeet K.
- Bonadona Valérie
- Bonanni Bernardo
- Bonnet Françoise
- Borg Ake
- Botes Leon
- Bourdon Violaine
- Boutry-Kryza Nadia
- Brady Angela F.
- Brauch Hiltrud
- Braye Stephen
- Brennan Meagan
- Brenner Hermann
- Bressac-de-Paillerets Brigitte
- Bronner Myriam
- Brown Melissa
- Brüning Thomas
- Bubien Virginie
- Buckley Michael
- Buecher Bruno
- Burgess Matthew
- Burke Jo
- Burwinkel Barbara
- Butow Phyllis
- Buys Saundra S.
- Bézieau Stéphane
- Cadoo Karen
- Caldon Liz
- Caldés Trinidad
- Caleca Laura
- Calender Alain
- Caliebe Almuth
- Caligo Maria A.
- Callen David
- Campa Daniele
- Campbell Ian G.
- Canzian Federico
- Caputo Sandrine
- Caron Olivier
- Carpenter Jane
- Castelao Jose E.
- Castera Laurent
- Catucci Irene
- Chang-Claude Jenny
- Chanock Stephen J.
- Chauhan Deepa
- Chauhan Manisha
- Chenevix-Trench Georgia
- Chiesa Jean
- Christian Alice
- Chung Wendy K.
- Claes Kathleen B. M.
- Clarke Christine L.
- Cohen Paul
- Colas Chrystelle
- Collavoli Anita
- Colley Alison
- Collonge-Rame Marie-Agnès
- Conner Thomas A.
- Coron Fanny
- Couch Fergus J.
- Coulet Florence
- Coupier Isabelle
- Cox David G.
- Crook Ashley
- Cui James
- Culling Bronwyn
- Cummings Margaret
- Cybulski Cezary
- Czene Kamila
- Dahlstrom Jane
- Daly Mary B.
- Damette Alexandre
- Dawson Sarah-Jane
- de la Hoya Miguel
- de Pauw Antoine
- DeFazio Anna
- Delatycki Martin
- Delnatte Capucine
- Dennis Joe
- Devilee Peter
- Dickson Rebecca
- Diez Orland
- Ding Yuan Chun
- Dite Gillian S.
- Ditsch Nina
- Dixon Joanne
- Dobrovic Alexander
- Domchek Susan M.
- Dorfling Cecilia M.
- dos-Santos-Silva Isabel
- Dreyfus Hélène
- Dudding Tracy
- Dumont Aurélie
- Dunning Alison M.
- Dupré Anaïs
- Durda Katarzyna
- Dwek Miriam
- Dörk Thilo
- Easton Douglas F.
- Eccles Diana M.
- Edkins Ted
- Edwards Stacey
- Eisenbruch Maurice
- Ekici Arif B.
- Eliassen A. Heather
- Ellberg Carolina
- Eriksson Mikael
- Evans D. Gareth
- Faivre Laurence
- Farshid Gelareh
- Fasching Peter A.
- Feillel Viviane
- Fellows Andrew
- Fenton Georgina
- Fert-Ferrer Sandra
- Field Michael
- Figlioli Gisella
- Figueroa Jonine
- Flanagan James
- Flyger Henrik
- Fong Peter
- Forbes John
- Forrest Laura
- Fostira Florentia
- Foulkes William D.
- Fourme Emmanuelle
- Fox Stephen
- French Juliet
- Friebel Tara M.
- Friedlander Michael
- Friedman Eitan
- Gabrielson Marike
- Gaddam Pragna
- Gaff Clara
- Gago-Dominguez Manuela
- Gallego-Ortega David
- Gao Chi
- Gapstur Susan M.
- Garber Judy
- García-Closas Montserrat
- García-Sáenz José A.
- Gattas Mike
- Gaudet Mia M.
- Gauthier-Villars Marion
- Gayther Simon A.
- George Peter
- Gesta Paul
- Giles Graham G.
- Gill Grantley
- Giraud Sophie
- Gladieff Laurence
- Glendon Gord
- Godwin Andrew K.
- Goldberg Mark S.
- Goldgar David E.
- Golmard Lisa
- Greene Mark H.
- Greening Sian
- Guillaud-Bataille Marine
- Guimbaud Rosine
- Gutierrez-Barrera Angelica M.
- Guénel Pascal
- Haan Eric
- Haeberle Lothar
- Hahnen Eric
- Haiman Christopher A.
- Hall Per
- Hamann Ute
- Harrington Patricia A.
- Harris Marion
- Hart Stewart
- Hayward Nick
- Hein Alexander
- Heiniger Louise
- Heyworth Jane
- Hillemanns Peter
- Hollestelle Antoinette
- Hopper John L.
- Hosgood H. Dean
- Howell Anthony
- Hu Chunling
- Hulick Peter J.
- Hunt Clare
- Hunter David J.
- Håkansson Niclas
- Imyanitov Evgeny N.
- Ingster Olivier
- Isaacs Claudine
- Jacquot Caroline
- Jakimovska Milena
- Jakubowska Anna
- James Paul
- Janavicius Ramunas
- Janni Wolfgang
- Jenkins Mark
- John Esther M.
- Jones Michael E.
- Jung Audrey
- Kaaks Rudolf
- Karlan Beth Y.
- Kefford Rick
- Khusnutdinova Elza
- Kidd Alexa
- Kientz Caroline
- Kiiski Johanna I.
- Kirk Judy
- Kitahara Cari M.
- Koehler Jessica
- Kollias James
- Konstantopoulou Irene
- Koutros Stella
- Kraft Peter
- Lakhani Sunil
- Lallaoui Hakima
- Lambrechts Diether
- Lasheras Sandra Viz
- Lasset Christine
- Lazaro Conxi
- Le Marchand Loic
- Le Mentec Marine
- Lebrun Marine
- Lee C. Soon
- Legrand Clémentine
- Lejbkowicz Flavio
- Lejeune Sophie
- Leroux Christine Dominique
- Leslie Goska
- Lester Jenny
- Lesueur Fabienne
- Lilyquist Jenna
- Lindeman Geoff
- Lipton Lara
- Lizard Sarab
- Lobb Liz
- Longy Michel
- Loud Jennifer T.
- Lu Karen H.
- Luben Robert N.
- Lubinski Jan
- Lush Michael
- Léone Mélanie
- Mann Graham
- Mannermaa Arto
- Manoochehri Mehdi
- Manoukian Siranoush
- Manouvrier-Hanu Sylvie
- Margolin Sara
- Mari Véronique
- Marsh Deborah
- Martens John W. M.
- Maurer Tabea
- Mavroudis Dimitrios
- McGuffog Lesley
- McLachlan Sue Anne
- Mebirouk Noura
- Meindl Alfons
- Meiser Bettina
- Menon Usha
- Michailidou Kyriaki
- Miller Austin
- Milne Roger L.
- Molina-Gomes Denise
- Moncoutier Virginie
- Montagna Marco
- Morey Adrienne
- Mortemousque Isabelle
- Muller Danièle
- Muranen Taru A.
- Nathanson Katherine L.
- Neuhausen Susan L.
- Nevanlinna Heli
- Newman William G.
- Nguyen-Dumont Tu
- Nielsen Finn Cilius
- Nielsen Sarah
- Nightingale Sophie
- Nikitina-Zake Liene
- Noguchi Tetsuro
- Noguès Catherine
- Offit Kenneth
- Olah Edith
- Olopade Olufunmilayo I.
- Olshan Andrew F.
- Olson Janet E.
- Olsson Håkan
- Osorio Ana
- Ottini Laura
- O’Connell Shona
- O’Sullivan Sarah
- Pachter Nick
- Parsons Michael T.
- Pathmanathan Nirmala
- Patterson Briony
- Peissel Bernard
- Peixoto Ana
- Peterlongo Paolo
- Peto Julian
- Peysselon Magalie
- Pharoah Paul D. P.
- Phillips Kelly
- Pieper Ellen
- Plaseska-Karanfilska Dijana
- Pocza Timea
- Popovici Cornel
- Presneau Nadege
- Prieur Fabienne
- Pujana Miquel Angel
- Pujol Pascal
- Pujol Roser
- Punie Kevin
- Rack Brigitte
- Radice Paolo
- Ramus Susan J.
- Rantala Johanna
- Rashid Muhammad U.
- Rau-Murthy Rohini
- Rebischung Christine
- Remenieras Audrey
- Rennert Gad
- Rhenius Valerie
- Rickard Edwina
- Robinson Bridget
- Romero Atocha
- Rookus Matti A.
- Ross Eric A.
- Rossing Maria
- Rudaitis Vilius
- Ruebner Matthias
- Révillion Françoise
- Saleh Mona
- Salisbury Elizabeth
- Saloustros Emmanouil
- Sambrook Joe
- Sanden Kristin
- Santamariña Marta
- Saule Claire
- Saunders Christobel
- Saunus Jodi
- Scheuner Maren T.
- Schmidt Marjanka K.
- Schmutzler Rita K.
- Schneider Michael
- Scott Christopher
- Scott Clare
- Scott Elizabeth
- Scott Rodney
- Senter Leigha
- Sevenet Nicolas
- Sexton Adrienne
- Shah Mitul
- Sharma Priyanka
- Shelling Andrew
- Shu Xiao-Ou
- Simard Jacques
- Simpson Peter
- Singer Christian F.
- Sobol Hagay
- Sohn Christof
- Sokolowska Johanna
- Soubrier Florent
- Soucy Penny
- Southey Melissa C.
- Spigelman Allan
- Spinelli John J.
- Spurdle Amanda
- Steele Linda
- Stoppa-Lyonnet Dominique
- Surrallés Jordi
- Swerdlow Anthony J.
- Tapper William J.
- Taylor Jessica
- Teixeira Manuel R.
- Terry Mary Beth
- Thomassen Mads
- Thompson Jennifer
- Thorne Heather
- Thull Darcy L.
- Tischkowitz Marc
- Toland Amanda E.
- Tollenaar Rob A.E.M.
- Torres Diana
- Toulas Christine
- Trainer Alison
- Troester Melissa A.
- Truong Thérèse
- Tucker Kathy
- Tung Nadine
- Uhrhammer Nancy
- Untch Michael
- Vachon Celine M.
- van Rensburg Elizabeth J.
- van Veen Elke M.
- Vaur Dominique
- Vega Ana
- Viel Alessandra
- Visvader Jane
- Vénat-Bouvet Laurence
- Walker Logan
- Wang Qin
- Wappenschmidt Barbara
- Warcoin Mathilde
- Weitzel Jeffrey N.
- Wendt Camilla
- Wieme Greet
- Wilcken Nicholas
- Williams Rachael
- Winship Ingrid
- Wolk Alicja
- Yang Xiaohong R.
- Yip Desmond
- Young Mary Ann
- Zeps Nikolajs
- Zheng Wei
- Ziogas Argyrios
- Zorn Kristin K.
- Publication venue
- npj Breast Cancer
- Publication date
- 01/01/2019
- Field of study
Abstract: Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes for a DNA translocase, has been proposed as a breast cancer predisposition gene, with greater effects for the ER-negative and triple-negative breast cancer (TNBC) subtypes. We tested the three recurrent protein-truncating variants FANCM:p.Arg658*, p.Gln1701*, and p.Arg1931* for association with breast cancer risk in 67,112 cases, 53,766 controls, and 26,662 carriers of pathogenic variants of BRCA1 or BRCA2. These three variants were also studied functionally by measuring survival and chromosome fragility in FANCM−/− patient-derived immortalized fibroblasts treated with diepoxybutane or olaparib. We observed that FANCM:p.Arg658* was associated with increased risk of ER-negative disease and TNBC (OR = 2.44, P = 0.034 and OR = 3.79; P = 0.009, respectively). In a country-restricted analysis, we confirmed the associations detected for FANCM:p.Arg658* and found that also FANCM:p.Arg1931* was associated with ER-negative breast cancer risk (OR = 1.96; P = 0.006). The functional results indicated that all three variants were deleterious affecting cell survival and chromosome stability with FANCM:p.Arg658* causing more severe phenotypes. In conclusion, we confirmed that the two rare FANCM deleterious variants p.Arg658* and p.Arg1931* are risk factors for ER-negative and TNBC subtypes. Overall our data suggest that the effect of truncating variants on breast cancer risk may depend on their position in the gene. Cell sensitivity to olaparib exposure, identifies a possible therapeutic option to treat FANCM-associated tumors
Finishing the euchromatic sequence of the human genome
- Author
- . Haifeng
- . Magner
- . Yin
- Abbott Scott
- Abbott-Ozersky Amanda
- Abdellah Zahra
- Abouelleil Amr
- Abrajano Anne
- Adachi Tamami
- Adam Catherine
- Adams Charles Q.
- Adamson Aaron
- Adekoya Emmanuel
- Adio-Oduola Babajide
- Aerts Andrea
- Aggarwal Arun
- Ahmadi Alireza
- Ahmed Shahana
- Aimable Matthew
- Ainscough Rachael
- Ait-Zahra Mostafa
- Aizu Tomoyuki
- Alcivare Dana
- Alegria Michelle
- Ali Alla
- Ali Johar
- Allegria-hartmann Michelle
- Alleman Jennifer
- Allen Carlana C.
- Allen Heather
- Allen Nicole R.
- Allen Susan
- Allen Thaddeus
- Almeida Jeff
- Almond Claire
- Alsbrooks Stephen L.
- Altherr Michael R.
- Amaratunge Harshinie C.
- Ambler Andrew
- Ambrose Karen
- Ambrose Kerrie
- Amemiya Chris
- Amico-Keller Gina
- Amin Amita G.
- Anderson Mechele
- Anderson Scott
- Anderson Scott
- Andora Janice
- Andredesz Carol
- Andrew Robert
- Andrews Dan
- Andrews Daniel
- Andrews Neil
- Andrews Stephanie
- Andriese Tim
- Anthouard Véronique
- Antonarakis Stylianos E.
- Anyalebechi Vivian
- Aoki Norie
- Apostolou Sinoula
- Apweiler Eva
- Arachchi Harindra
- Arai Rie
- Arbery Hazel
- Arcaina Marlon
- Arcaina Terisita
- Archer Beth
- Arellano Andre
- Arellano-Jones Perry
- Armbruster Jeff
- Armstrong Jon
- Arredondo Dilrukshi P.
- Arredondo Heather Hope
- Artiguenave François
- Asakawa Shuichi
- Asakawa Teruyo
- Ash Gareth
- Ashcroft Kevin
- Ashurst Jennifer
- Ashwell Robert
- Ashworth Linda K.
- Aslanidis Cara
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- Krawczyk Marie-Claude
- Kremitzki Colin
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- Krogh Anders
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- Lewis Lakeshia C.
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- Lowenstein Michael G.
- Lowry Stephen
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- MacLean Christine
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- Un Chun
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- West Paul
- West Tony
- Wetterstrand Kris
- Wheatley Angela
- Wheatley Carl
- Wheeler David A.
- Wheeler Gideon
- Wheeler Jeremy
- Whitaker Hayley
- White Adam
- White Amelia
- White Brian
- White Catherine
- White Flower
- White Jennifer
- White Johnathon
- White P. Scott
- White Scott P.
- White Simon
- Whitehead Sally
- Whiteley Matthew
- Whitmore Scott
- Whittaker Adam
- Whittaker Charles
- Whittaker Pamela
- Wickremasinghe Manosha I.
- Widaa Sara
- Wiegel Sarah
- Wild Anna
- Wilkinson Jane
- Wilkinson Jane
- Wilkinson Paul
- Willey David
- Williams Albert L.
- Williams Andy
- Williams Bill
- Williams Gabrielle A.
- Williams Leanne
- Williamson Angela L.
- Williamson Helen
- Wills Patricia L.
- Wills Richard
- Wilmer Tamsin
- Wilming Laurens
- Wilson Brian
- Wilson Gareth
- Wilson Margaret
- Wilson Nyree
- Wilson Piers
- Wilson Richard K.
- Wilson Siobhan
- Wilson Steve
- Wilson Wendy
- Wincker Patrick
- Window Philip
- Winster Jenny
- Winzar Claire
- Witt James
- Wleczyk Regina
- Wobus Fred
- Woessner Jeffrey
- Wohldmann Patty
- Wollard Jessica
- Womack Andrew W.
- Wong Benjamin
- Wong Gane K-S
- Wood Diane
- Wood Emma
- Wood Joe
- Wooden Hailey S.
- Wooden Steven H.
- Woodeson Sharon
- Woodfine Kathryn
- Woodmansey Rebecca
- Woods Eric
- Woodwark Cara
- Wooster Richard
- Worley Kim Carlyle
- Woyke Tanja
- Wray Matthew
- Wray Paul
- Wright Charmain
- Wright Debbie
- Wright Kathrine
- Wright Kristin
- Wright Rita A.
- Wu Chungen
- Wu Dongying
- Wu Jiaqian
- Wu Jung-Rung
- Wu Kevin
- Wu Qingfa
- Wu Qingfa
- Wu Ruiming
- Wu Xiao
- Wu Xiaojing
- Wu Zaining
- Wyatt Julia
- Wycoff-Montenegro Melissa
- Wylie Kris
- Wyman Dudley
- Wyman Stacia
- Xi Yan
- Xi Yingying
- Xie Fei
- Xie Gary
- Xie Jane
- Xiong Hui
- Xiong Yuqing
- Xu Alex
- Xu Jing
- Xu Jing
- Xu Ruqin
- Xu Shuhua
- Xu Wei
- Xu Xinlai
- Xu Yan
- Xu Yuning
- Xu Zhihong
- Xu Zuyuan
- Xuan Yali
- Xuan Zhenyu
- Xue Rui
- Yada Tetsushi
- Yadav Shailendra
- Yakub Syed
- Yamamoto Lynn
- Yamamoto Noriko
- Yamamoto Yuko
- Yamashita Yasue
- Yamazaki Satoru
- Yang Hao
- Yang Huanming
- Yang Huanming
- Yang Joan
- Yang Shiaw-Pyng
- Yang Shudong
- Yang Xiaonan
- Yang Xiaonan
- Yang Xiaoping
- Yang Yongkui
- Yano Candance
- Yao Zhijian
- Yao Zhijian
- Yaspo Marie-Laure
- Ye Chen
- Yeager Shane
- Yeh Mimi
- Yen Jennifer
- Yeshitela Rahel Retta
- Yoakum Martin
- Yokobata Kathy
- Yokoyama Jennifer
- Yonezawa Miho
- Yoon Lillienne
- Yoon Vivienne
- Yoshida Satoru
- You Bo
- Young Geneva
- Young Louise
- Young Shelia
- Younger Ruth
- Yu Bing
- Yu Charles
- Yu Fuli
- Yu Jun
- Yu Jun
- Yu Jun
- Yuan Kaiwen
- Yuan Ye
- Yuan Yida
- Yue Shujie
- Yumae Brian
- Yun Rui
- Zainoun Joanne
- Zembeck Lisa
- Zeng Yixin
- Zhai Dong
- Zhan Guoping
- Zhang Bo
- Zhang Caimin
- Zhang Fengmei
- Zhang Guangyu
- Zhang Guohua
- Zhang Guohua
- Zhang Haiqing
- Zhang Haiqing
- Zhang Haiqing
- Zhang Hongbo
- Zhang Hongbo
- Zhang Jingjing
- Zhang Jingjing
- Zhang Jingkun
- Zhang Jiuchun
- Zhang Jiuchun
- Zhang Lanzhi
- Zhang Li
- Zhang Li
- Zhang Meihua
- Zhang Meng
- Zhang Ming
- Zhang Qing
- Zhang Ruhua
- Zhang Shaojie
- Zhang Tiezhen
- Zhang Wei
- Zhang Wei
- Zhang Xianglin
- Zhang Xianglin
- Zhang Xiaoliang
- Zhang Xiuqing
- Zhang Yan
- Zhang Yi
- Zhang Yilin
- Zhang Yilin
- Zhang Ying
- Zhang Yuansen
- Zhang Yuzhi
- Zhang Zhengdong
- Zhao Hongmei
- Zhao Lijian
- Zhao Shenru
- Zhao Zhijing
- Zhen Zhicheng
- Zheng Haibo
- Zhong Ming
- Zhou Carol
- Zhou Haixia
- Zhou Jianling
- Zhou Nannan
- Zhou Xinfeng
- Zhou Yan
- Zhou Yang
- Zhou Yi
- Zhu Bingying
- Zhu Bofeng
- Zhu Fenghua
- Zhu Genfeng
- Zhu Genfeng
- Zhu Miao
- Zhu Ning
- Zhu Yongge
- Zhu Zhen
- Zhuang Shitao
- Zierten Deborah
- Zimmer Andrew
- Zody Michael C.
- Zollo Massimo
- Zorrilla Sara E.
- Zuo Lin
- Publication venue
- LSU Digital Commons
- Publication date
- 21/10/2004
- Field of study
The sequence of the human genome encodes the genetic instructions for human physiology, as well as rich information about human evolution. In 2001, the International Human Genome Sequencing Consortium reported a draft sequence of the euchromatic portion of the human genome. Since then, the international collaboration has worked to convert this draft into a genome sequence with high accuracy and nearly complete coverage. Here, we report the result of this finishing process. The current genome sequence (Build 35) contains 2.85 billion nucleotides interrupted by only 341 gaps. It covers ∼99% of the euchromatic genome and is accurate to an error rate of ∼1 event per 100,000 bases. Many of the remaining euchromatic gaps are associated with segmental duplications and will require focused work with new methods. The near-complete sequence, the first for a vertebrate, greatly improves the precision of biological analyses of the human genome including studies of gene number, birth and death. Notably, the human enome seems to encode only 20,000-25,000 protein-coding genes. The genome sequence reported here should serve as a firm foundation for biomedical research in the decades ahead
AI is a viable alternative to high throughput screening: a 318-target study
- Author
- Abaffy Tatjana
- Abraham Elena Theres
- Abrahão Jônatas Santos
- Abramyan Tigran M.
- Agianian Bogos
- Agogo-Mawuli Percy
- Agoulnik Alexander I.
- Agrawal Rajendra K.
- Aguilera Elena
- Ahmed Mostafa
- Akk Gustav
- Akopian Tatos
- Al-Yozbaki Minnatallah
- Aldhamen Yasser Ali
- Alkan Cigdem
- Alramadhani Dina
- Alteen Matthew G.
- Alvarez Guzmán
- Ammendola Serena
- Anastasio Noelle C.
- Anderson Brandon M.
- Anderson Deborah H.
- Andricopulo Adriano D.
- Angell Richard M.
- Anthis Nicholas J.
- Antonelli Lorenzo
- Apfel Athena Marie
- Arias Juan Antonio Sanchez
- Arozarena Imanol
- Arrigoni Cristina
- Artía Zoraima
- Ashkar Shireen R.
- Ashton Mark R.
- Austin Richard C.
- Ayachi Aicha Gharbi
- Azeem Syeda Maryam
- Bailey-Elkin Ben A.
- Balakrishnan Bijina
- Balaña-Fouce Rafael
- Ballatore Carlo
- Banerjee Sourav
- Banerji Versha
- Banjo Toshihiro
- Barghash Marim M.
- Batey Robert A.
- Battistoni Andrea
- Baumann Ulrich
- Bdira Fredj Ben
- Bedi Mel
- Ben-Johny Manu
- Bergman Bastiaan
- Bernard Denzil
- Berti Andrew
- Bharambe Nikhil
- Bishop Ozlem Tastan
- Blanchet Xavier
- Blelloch Robert
- Blumenthal Robert M.
- Bognár Gabriella
- Bogomolovas Julijus
- Bon Carlotta
- Boorman Jacob
- Borowska Anna
- Borriello Francesco
- Bowman Gregory R.
- Bradley Robert K.
- Bradshaw William J.
- Brady-Kalnay Susann M.
- Breton Hairol E.
- Bruning John B.
- Bruning John Burt
- Bryant-Friedrich Amanda
- Buckner Frederick S.
- Buroni Silvia
- Butler Brittany
- Byrne Lee J.
- Byun Soo Young
- Caflisch Amedeo
- Cakir Isin
- Caliandro Ileana
- Caljon Guy
- Cann Andrew B.
- Caporali Andrea
- Capuzzi Stephen J.
- Caroleo Maria Cristina
- Cathcart Ann M.
- Celano Stephanie L.
- Cerna Mark Vincent C. dela
- Chadni Somaia Haque
- Champion Matthew M.
- Chan Nei-Li
- Chapman Carly J.
- Chaton Catherine T.
- Chatterjee Arnab K.
- Chaudhuri Dipayan
- Chauhan Shefali
- Chaytow Helena
- Chen Daniel
- Chen Lifeng
- Chen Yicheng
- Chern Ting-Rong
- Chini Andrea
- Chou Tristan
- Chou Tsui-Fen
- Christensen Emily M.
- Christodoulides Myron
- Chu Shaoyou
- Chua Benjamin Soon Kai
- Chuah Janelle
- Chung Zara
- Chuong Patrick
- Ciccia Alberto
- Cildir Gökhan
- Cione Erika
- Clayton W. Brent
- Coles John G.
- Colomba Audrey
- Colotti Gianni
- Conn Graeme L.
- Conticello Silvestro G.
- Contreras Stephanie
- Cools Julie
- Coombe Deirdre R.
- Corson Timothy W.
- Cortopassi Gino
- Corvo Ileana
- Costoya Jose A.
- Cowen Leah E.
- Cox Bryan D.
- Cuddihy Andrew R.
- Cullinane Ryan T.
- Cunningham Kathryn A.
- Dahal Gopal
- Dallman Sydney
- Dame Remus T.
- Davtyan Aram
- De Keulenaer Gilles
- De Luise Monica
- de Oliveira Aldo Sena
- de Oliveira Saulo
- de Sousa Alessandra Mara
- de Souza Guilherme Eduardo
- Debonsi Hosana Maria
- Degterev Alexei
- DeHaan Nicholas
- Del Rio Flores Antonio
- Dempsey Garrett
- Desai Umesh R.
- Diallo Bakary N’tji
- Dickhout Jeffrey
- Dickinson Bryan C.
- Dieck Chelsea L.
- Dirksen Dorian
- do Monte-Neto Rubens Lima
- Dolce Vincenza
- Donaldson William A.
- Douville Renée N.
- Dowling David J.
- Drewry David H.
- Duggan Brendan M.
- Duncan Dustin
- Dymock Brian W.
- Dzhumaev Sergei
- D’Antuono Anna
- Ebright Richard H.
- Eckert Sam
- Edelman Benjamin L.
- Eitzen Gary
- ElSheikh Assmaa
- Englinger Bernhard
- Escaffre Olivier
- Espinoza Stefano
- Evans Jay D.
- Faller Kiterie M. E.
- Fan Erkang
- Fan Hua-Ying
- Fathallah M. Dahmani
- Feng Hui
- Ferrando Adolfo A.
- Ferraris Davide Maria
- Ferreira Jacob
- Ferreira Rafaela Salgado
- Fiermonte Giuseppe
- Finkelstein Joshua M.
- Fiorillo Annarita
- Fish Paul V.
- Foong Wuen Ee
- Foote Andrea Talbot
- Francisco Karol R.
- Frangos Zachary J.
- Fraser Cameron
- Freiberg Alexander N.
- Freywald Andrew
- Friedland Greg
- Fries Jacob
- Gadar Kavita
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- Garcia George A.
- García-Cuesta Eva M.
- Garmendia Antonio E.
- Gasparre Giuseppe
- Gavathiotis Evripidis
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- Geden Sandra E.
- Geisbrecht Brian V.
- Gelardi Edoardo Luigi Maria
- Gerwick William H.
- Ghilarducci Kim
- Ghosh Agnidipta
- Giardini Miriam A.
- Gierse Robin Matthias
- Giesler Kyle
- Gillingwater Thomas H.
- Gingras Alexandre R.
- Giorgis Marta
- Girolimetti Giulia
- Glubb Dylan M.
- Glukhov Evgenia
- Gniewek Pawel
- Goldenberg Joshua M.
- Gong Bin
- Gorgoglione Ruggiero
- Granneman James G.
- Greene Geoffrey L.
- Greig Iain R.
- Gruber Joshua J.
- Guido Rafael V. C.
- Gumede Njabulo Joyfull
- Gunasekharan Vignesh
- Gupta Tushita
- Gupta Yogesh K.
- Gustincich Stefano
- Haas Arthur L.
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- Haikarainen Teemu
- Hammock Bruce D.
- Hannink Mark
- Hansen Kasper B.
- Hare Stephanie
- Harijan Rajesh K.
- Haupt Larisa M.
- He Yuan
- Hedstrom Lizbeth
- Hedstrom Lizbeth
- Heifets Abraham
- Henriksen Niel
- Herdendorf Timothy J.
- Hermle Tobias
- Herr Andrew B.
- Hickey Robert J.
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- Hirsch Anna K. H.
- Ho Gregory
- Hopkins Kevin M.
- Hoppe Heinrich
- Horstmann Nicola
- Hosfield David J.
- Hossain Sakib
- Houry Walid A.
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- Hu Di
- Hu Yanmei
- Huang Chang
- Huimei Chen
- Hussain Muhammad Saddam
- Iglesias Pablo
- Ikegami Tetsuro
- Ilari Andrea
- Inde Zintis
- Ingoglia Filippo
- Iommarini Luisa
- Ip Philbert
- Jackson Michael R.
- Jafar-Nejad Hamed
- Jayasinghe Thilina D.
- Jo Eunji
- Johannsen Sandra
- John Ashley L. St.
- Jones Peter L.
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- Jung Hoyoung
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- Kandror Olga
- Karan Charles
- Katyal Sachin
- Kee Jung-Min
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- Kejriwal Rishabh
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- Kelm Robert J.
- Kemet Chinyere Maat
- Kenyon Victor
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- Khalaf Noureddine Ben
- Kilkenny Mairi Louise
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- Kim Kyu Kwang
- Kootstra Neeltje A.
- Koppisetti Rama K.
- Korotkov Konstantin V.
- Kotzé Timothy J.
- Kováts Benjámin
- Kratz Jadel Müller
- Krishnamurthy Durga
- Krist David T.
- Kroon Erna Geessien
- Kushnir Alexander
- Kwiatkowski Jacek
- Laggner Christian
- Lai Kent
- Lake Robert J.
- Lam Andrew
- Lama Eleonora
- Lan Tong
- Landfear Scott M.
- Lasarte Juan José
- Lawrence Daniel A.
- Lee Andreia H.
- Lee Donghan
- Lee Gyeongeun
- Lee Jiyoun
- Lee Kyung Hyeon
- Lee Pil H.
- Legare Scott
- Lehtiö Lari
- Lembo Gaia
- Lempicki Camille
- Lenci Elena
- Leng Fenfei
- Lescar Julien
- Leung Elisa
- Leuzzi Giuseppe
- Levin Michael
- Li Hai
- Li Shan
- Li Wei
- Li Yihe
- Li Yong
- Li Yunlong
- Liao Jiayu
- Liao Junzhuo
- Lieberman Howard B.
- Lin Jiabei
- Lin Jiusheng
- Liou Benjamin
- Lisabeth Erika Mathes
- Liu Chen
- Liu Koting
- Liu Pengda
- Liu Pengda
- Liu Zhongle
- Lobb Kevin A.
- Lolicato Marco
- Lolli Marco Lucio
- Longo Nicola
- Lotsaris Irina
- Lowther W. Todd
- Loy Cody A.
- Lu Xin
- Luh Frank
- Lukacs Gergely L.
- Luo Dahai
- Lussier Marc P.
- Lynn Edward G.
- Machaca Khaled
- Maciag Joseph J.
- Macias Maria J.
- MacKeigan Jeffrey P.
- Mahmoodi Niusha
- Maksimainen Mirko M.
- Malkas Linda H.
- Maltarollo Vinícius Gonçalves
- Mameli Eleonora
- Manor Danny
- Mantri Chinmay Kumar
- Maranda Vincent
- Martin Katie R.
- Martin-Malpartida Pau
- Maruta Shinsaku
- Marx Steven O.
- Mason Emily R.
- Matheeussen An
- Matovic Nick
- Mattevi Andrea
- Maurice Martin St.
- Mayer Gaétan
- Maynes Jason T.
- Mazitschek Ralph
- McCarthy Ronan R.
- McDowell Mary Ann
- McManus Kirk James
- Mehedi Masfique
- Mehlman Tamar
- Mellado Mario
- Mellor Paul
- Merrill Nathan M.
- Michlewski Gracjan
- Milosavljevic Julian
- Minakova Anna
- Miner Jaden
- Moharreri Ehsan
- Molyneaux Kathleen A.
- Montanaro Anna
- Moore Hannah P.
- Moore Richard G.
- Moreda Teresa Lozano
- Moreira David
- Moreira Paulo Otávio Lourenço
- Morisseau Christophe
- Morrison Adrian
- Morten Brianna C.
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- Motyl Anna A. L.
- Mousa Jarrod J.
- Mowat Michael
- Muli Christine S.
- Mungrue Imran N.
- Mushtaq Aisha
- Musta Kirsikka
- Müller Anna
- Müller Christa E.
- Myhr Courtney
- Mysinger Michael
- Mysore Venkatesh
- Nagai Maira Harume
- Nagamori Kiyo
- Namasivayam Vigneshwaran
- Nasburg Joshua Alexander
- Ng Ho Leung
- Ng James
- Ngo Lien
- Ngoi Peter
- Nguyen Kong
- Novina Carl D.
- null null
- Ogunwa Tomisin Happy
- Ojha Anil K.
- Ojo Kayode K.
- Olson Steven H.
- Ortiz Diana
- Oyarzabal Julen
- O’Brien Terrence E.
- O’Connell Patrick
- O’Dea Austin
- O’Donoghue Anthony J.
- O’Mara Megan L.
- O’Mara Tracy A.
- O’Meara Timothy R.
- O’Sullivan Ann Marie
- Pai Vaibhav P.
- Paige Mikell
- Palazzo Teresa
- Panganiban Antonito T.
- Paparella Ashleigh S.
- Parang Keykavous
- Parico Gian Carlo G.
- Park Soonju
- Partch Carrie L.
- Pascal John M.
- Pasquali Marzia
- Patel Amit K.
- Paulino Cristina
- Pederick Jordan L.
- Peltier Cheryl
- Pemberton Ryan P.
- Perry Benjamin
- Perry J. Jefferson P.
- Petretto Enrico
- Pérez-Pertejo Yolanda
- Phadke Sameer
- Pham Kien
- Pineda-Lucena Antonio
- Poirier Steve
- Popowicz Grzegorz Maria
- Porcelli Anna Maria
- PrasadPrasad Srimukh Veccham Krishna
- Presser Adam G.
- Pressly Brandon
- Prikler Gergely
- Prince Ashutosh
- Puchades-Carrasco Leonor
- Pusztai Lajos
- Qi Xin
- Qin Xingping
- Qureshi Insaf Ahmed
- Rabal Obdulia
- Radhakrishnan Senthil K.
- Ramachandran Rajesh
- Randall Lía M.
- Rangarajan Amith Vikram
- Rayman Joseph B.
- Reglero Clara
- Reguera Rosa Maria
- Reidenbach Andrew G.
- Reis Joana
- Ribeiro Beatriz Murta Rezende Moraes
- Richardson Timothy I.
- Riches David W. H.
- Rizzi Menico
- Robinson Victoria L.
- Rocha Rafael Eduardo Oliveira
- Rodriguez G. Marcela
- Rodríguez-Frade José Miguel
- Rohde Kyle H.
- Ronchi Virginia Paola
- Ronning Donald R.
- Rosnik Andreana
- Roti Giovanni
- Rouzbeh Nirvan
- Rowswell-Turner Rachael B.
- Rubin Eric J.
- Rucinski Gwennan
- Safo Martin K.
- Sainas Stefano
- Salas Brenda P. Medellin
- Samantha Ariela
- Samudio Ben
- Santiago César
- Sarangapani Krishna
- Sarilla Suryakala
- Sarosiek Kristopher
- Schneider Nicholas O.
- Schroedl Stefan
- Scoffone Viola Camilla
- Segers Vincent F. M.
- Seo Seung-Yong
- Serafim Mateus Sá Magalhães
- Shaqra Ala M.
- Shek Stefani
- Shelburne Samuel A.
- Shim Heesung
- Shorter James
- Shoue Douglas A.
- Shum David
- Shyng Show-Ling
- Siderovski David P.
- Sidorova Yulia A.
- Silva Elany Barbosa
- Silvennoinen Olli
- Singh Nathanael
- Singh Neeraj
- Singh Rakesh K.
- Siqueira-Neto Jair L.
- Sishtla Kamakshi
- Sistla Jyothi C.
- Skorodinsky Maxim
- Slotboom Dirk J.
- Smith David M.
- Smith Kristiana S.
- Smrcka Alan V.
- So Jonathan
- Sobrado Pablo
- Soellner Matthew B.
- Solano Roberto
- Sorenson Jon M.
- Stafford Kate
- Stahl Andreas
- Statsyuk Alexander V.
- Stec Natalia
- Stecula Adrian
- Stetefeld Joerg
- Strauss Erick
- Stuchbury Grant David
- Su Leila
- Su Tong
- Su Zhengchen
- Sugamori Kim S.
- Sun Ying
- Suterwala Shabbir
- Svensson Fredrik
- Sverzhinsky Aleksandr
- Swart Tarryn
- Taglialatela Angelo
- Tam Heng-Keat
- Tandon Vasudha
- Tang Weiping
- Tang Young
- Tanner John J.
- Taylor Richard E.
- Teixeira Thaiz Rodrigues
- Teramoto Tadahisa
- Thai Van Chi
- Thayer Desiree
- Thomas Bill
- Thompson Erik W.
- Tilford Hannah
- Tiwari Rakesh Kumar
- Toh Alan Kie Leong
- Tomilov Alexey
- Toogood Peter
- Torner Carles
- Trabocchi Andrea
- Trader Darci J.
- Trakhtenberg Ephraim F.
- Trinh Nguyen Mai
- Truong Ha
- Tse-Dinh Yuk-Ching
- Tsimbalyuk Sofiya
- Tumes Damon J.
- Tye Mark A.
- Uribe Ruben Vazquez
- Valli Marilia
- van den Akker Focco
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- Van Doren Steven R.
- Van Grack Tessa
- Van Hung Le Vuong
- Van Pelt Natascha
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- Vandenberg Robert J.
- Veit Guido
- Verhamme Ingrid M.
- Verma Rajkumar
- Viola Ronald E.
- Virtanen Anniina
- Vizeacoumar Franco J.
- Vizeacoumar Frederick S.
- Vleminckx Margot
- von Hundelshausen Philipp
- Voss Jan Hendrik
- Vrielink Alice
- Waggoner Stephen N.
- Walensky Loren D.
- Wallach Izhar
- Wang Feng
- Wang Jianghai
- Wang Jun
- Wang Xingyou
- Wang Zhenghe
- Warrington Jeffrey M.
- Watkins Joshua
- Wazir Sarah
- Weber Christian
- Welsbie Derek S.
- Wentworth Kelly L.
- Wert-Lamas Leon
- White Andrew
- White Simon J.
- Whitesell Luke
- Williams Tiffany
- Wilson Cornelia M.
- Wilson Mark A.
- Windisch Marc P.
- Wong Keith S.
- Woods Virgil A.
- Worley Brad
- Wu Pengpeng
- Wu Xiaoyang
- Wulff Heike
- Xiang Fei
- Xu Hongyang
- Xu Jiake
- Xu Jingyi
- Xu Sophia Q.
- Xu Xin
- Yan Riqiang
- Yang Chao-Yie
- Yen Yun
- Young Matthew A.
- Yu Fang
- Yu Xinfang
- Yuan Haynes
- Yuan Xinrui
- Zahler Stefan
- Zeina Christina M.
- Zelinskaya Natalia
- Zhang Dingqiang
- Zhang Gang
- Zhang Wenjun
- Zhang Xu
- Zhang Yan Jessie
- Zhang Zhiguo
- Zhao Jinshi
- Zhou Han
- Zhou Hui
- Zhou Jia
- Zhou Pei
- Zhou Shan
- Zhu Jiaqi
- Zhu Siran
- Zhu Yini
- Zhuo Ling
- Zochodne Douglas William
- Publication venue
- Publication date
- 01/01/2024
- Field of study
: High throughput screening (HTS) is routinely used to identify bioactive small molecules. This requires physical compounds, which limits coverage of accessible chemical space. Computational approaches combined with vast on-demand chemical libraries can access far greater chemical space, provided that the predictive accuracy is sufficient to identify useful molecules. Through the largest and most diverse virtual HTS campaign reported to date, comprising 318 individual projects, we demonstrate that our AtomNet® convolutional neural network successfully finds novel hits across every major therapeutic area and protein class. We address historical limitations of computational screening by demonstrating success for target proteins without known binders, high-quality X-ray crystal structures, or manual cherry-picking of compounds. We show that the molecules selected by the AtomNet® model are novel drug-like scaffolds rather than minor modifications to known bioactive compounds. Our empirical results suggest that computational methods can substantially replace HTS as the first step of small-molecule drug discovery