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Meehan, T.F.* ; Conte, N.* ; West, D.B.* ; Jacobsen, J.O.* ; Mason, J.* ; Warren, J.* ; Chen, C.K.* ; Tudose, I.* ; Relac, M.* ; Matthews, P.* ; Karp, N.* ; Santos, L.* ; Fiegel, T.* ; Ring, N.* ; Westerberg, H.* ; Greenaway, S.* ; Sneddon, D.* ; Morgan, H.* ; Codner, G.F.* ; Stewart, M.E.* ; Brown, J.* ; Horner, N.R.* ; Haendel, M.* ; Washington, N.* ; Mungall, C.J.* ; Reynolds, C.L.* ; Gallegos, J.* ; Gailus-Durner, V. ; Sorg, T.* ; Pavlovic, G.* ; Bower, L.R.* ; Moore, M.* ; Morse, I.* ; Gao, X.* ; Tocchini-Valentini, G.P.* ; Obata, Y.* ; Cho, S.Y.* ; Seong, J.K.* ; Seavitt, J.R.* ; Beaudet, A.L.* ; Dickinson, M.E.* ; Herault, Y.* ; Wurst, W. ; Hrabě de Angelis, M. ; Lloyd, K.C.K.* ; Flenniken, A.M.* ; Nutter, L.M.J.* ; Newbigging, S.* ; McKerlie, C.* ; Justice, M.J.* ; Murray, S.A.* ; Svenson, K.L.* ; Braun, R.E.* ; White, J.K.* ; Bradley, A.* ; Flicek, P.* ; Wells, S.* ; Skarnes, W.C.* ; Adams, D.J.* ; Parkinson, H.* ; Mallon, A.M.* ; Brown, S.D.M.* ; Smedley, D.*

Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium.

Nat. Genet. 49, 1231-1238 (2017)
Postprint DOI PMC
Open Access Green
Although next-generation sequencing has revolutionized the ability to associate variants with human diseases, diagnostic rates and development of new therapies are still limited by a lack of knowledge of the functions and pathobiological mechanisms of most genes. To address this challenge, the International Mouse Phenotyping Consortium is creating a genome- and phenome-wide catalog of gene function by characterizing new knockout-mouse strains across diverse biological systems through a broad set of standardized phenotyping tests. All mice will be readily available to the biomedical community. Analyzing the first 3,328 genes identified models for 360 diseases, including the first models, to our knowledge, for type C Bernard-Soulier, Bardet-Biedl-5 and Gordon Holmes syndromes. 90% of our phenotype annotations were novel, providing functional evidence for 1,092 genes and candidates in genetically uncharacterized diseases including arrhythmogenic right ventricular dysplasia 3. Finally, we describe our role in variant functional validation with The 100,000 Genomes Project and others.
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Publication type Article: Journal article
Document type Scientific Article
Keywords Genome-wide; Expression Atlas; Mice; Ontology; Database; Association; Information; Generation; Resources; Mutations
Language english
Publication Year 2017
HGF-reported in Year 2017
ISSN (print) / ISBN 1061-4036
e-ISSN 1546-1718
Journal Nature Genetics
Quellenangaben Volume: 49, Issue: 8, Pages: 1231-1238 Article Number: , Supplement: ,
Publisher Nature Publishing Group
Publishing Place New York, NY
Reviewing status Peer reviewed
Institute(s) Institute of Experimental Genetics (IEG)
Institute of Developmental Genetics (IDG)
POF-Topic(s) 30201 - Metabolic Health
30204 - Cell Programming and Repair
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500600-001
G-500500-001
G-500692-001
DOI 10.1038/ng.3901
WOS ID WOS:000406397900013
Scopus ID 85026357870
PubMed ID 28650483
Erfassungsdatum 2017-07-20
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