ArticlemedRxiv : the preprint server for health sciences2023
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Valentina Cipriani, Letizia Vestito, Emma F Magavern, Julius Ob Jacobsen, Gavin Arno, Elijah R Behr, Katherine A Benson, Marta Bertoli, Detlef Bockenhauer, Michael R Bowl and 51 more
Open access · greenAbstract readPreprint
In one paragraphArticle in medRxiv : the preprint server for health sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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What it found
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2 · The registryThe trial behind it
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3 · Its place in the literatureWho cites it
0 citing papers in PubMed, 3 citations in OpenAlex.
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4 · The recordCorrections and comments
5 · Who and what moneyAuthors and funding
61 authors at 20 institutions in 7 countries.
Valentina Cipriani
Letizia Vestito
Emma F Magavern
Julius Ob Jacobsen
Gavin Arno
Elijah R Behr
Katherine A Benson
Marta Bertoli
Detlef Bockenhauer
Michael R Bowl
Kate Burley
Li F Chan
Patrick Chinnery
Peter Conlon
Marcos Costa
Alice E Davidson
Sally J Dawson
Elhussein Elhassan
Sarah E Flanagan
Marta Futema
Daniel P Gale
Sonia García-Ruiz
Cecilia Gonzalez Corcia
Helen R Griffin
Sophie Hambleton
Amy R Hicks
Henry Houlden
Richard S Houlston
Sarah A Howles
Robert Kleta
Iris Lekkerkerker
Siying Lin
Petra Liskova
Hannah Mitchison
Heba Morsy
Andrew D Mumford
William G Newman
Ruxandra Neatu
Edel A O'Toole
Albert Cm Ong
Alistair T Pagnamenta
Shamima Rahman
Neil Rajan
Peter N Robinson
Mina Ryten
Omid Sadeghi-Alavijeh
John A Sayer
Claire L Shovlin
Jenny C Taylor
Omri Teltsh
Ian Tomlinson
Arianna Tucci
Clare Turnbull
Albertien M van Eerde
James S Ware
Laura M Watts
Andrew R Webster
Sarah K Westbury
Sean L Zheng
Mark Caulfield
Damian Smedley
University College London · GBQueen Mary University of London · GBCentre for Human Genetics · GBNational Hospital for Neurology and Neurosurgery · GBUniversity of Bristol · GBBeaumont Hospital · IEInstitute of Cancer Research · GBMoorfields Eye Hospital NHS Foundation Trust · GBMRC London Institute of Medical Sciences · GBNewcastle University · GBNewcastle upon Tyne Hospitals NHS Foundation Trust · GBRoyal College of Surgeons in Ireland · IESt George's, University of London · GBUniversity Medical Center Utrecht · NLUniversity of Oxford · GBCentre Hospitalier Universitaire Sainte-Justine · CACharles University · CZGreat North Children's Hospital · GBImperial College London · GBJackson Laboratory · US
Funding
Improvements to the LinkML framework to support the Phenomics First open science resourceRM1HG010860 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI HAENDEL, MELISSA A, MUNGALL, CHRISTOPHER J · 2020 to 2024
$10.3MCancer Research UK 25514Medical Research Council MC_EX_MR/M009203/1Medical Research Council MC_PC_14089Medical Research Council MC_UP_1102/20Medical Research Council MR/M009203/1Medical Research Council MR/N008324/1Medical Research Council MR/S021329/1Medical Research Council MR/S031820/1Medical Research Council MR/X004597/1NHGRI NIH HHS RM1 HG010860Wellcome Trust 207556/Z/17/Z
6 · The paper itselfAbstract
To discover rare disease-gene associations, we developed a gene burden analytical framework and applied it to rare, protein-coding variants from whole genome sequencing of 35,008 cases with rare diseases and their family members recruited to the 100,000 Genomes Project (100KGP). Following
Identifiers
PMID38196618
PMCPMC10775325
OpenAlexW4390110942
What OpenQuestion holds
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