Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium
- Authors
- Meehan, Terrence F; Conte, Nathalie; West, David B; Jacobsen, Julius O; Mason, Jeremy; Warren, Jonathan; Chen, Chao-Kung; Tudose, Ilinca; Relac, Mike; Matthews, Peter; Karp, Natasha; Santos, Luis; Fiegel, Tanja; Ring, Natalie; Westerberg, Henrik; Greenaway, Simon; Sneddon, Duncan; Morgan, Hugh; Codner, Gemma F; Stewart, Michelle E; Brown, James; Horner, Neil; International Mouse Phenotyping Consortium; Haendel, Melissa; Washington, Nicole; Mungall, Christopher J; Reynolds, Corey L; Gallegos, Juan; Gailus-Durner, Valerie; Sorg, Tania; Pavlovic, Guillaume; Bower, Lynette R; Moore, Mark; Morse, Iva; Gao, Xiang; Tocchini-Valentini, Glauco P; Obata, Yuichi; Cho, Soo Young; Seong, Je Kyung; Seavitt, John; Beaudet, Arthur L; Dickinson, Mary E; Herault, Yann; Wurst, Wolfgang; de Angelis, Martin Hrabe; Lloyd, KC Kent; Flenniken, Ann M; Nutter, Lauryl MJ; Newbigging, Susan; McKerlie, Colin; Justice, Monica J; Murray, Stephen A; Svenson, Karen L; Braun, Robert E; White, Jacqueline K; Bradley, Allan; Flicek, Paulv; Wells, Sara; Skarnes, William C; Adams, David J; Parkinson, Helen; Mallon, Ann-Marie; Brown, Steve DM; Smedley, Damian
- Issue Date
- Aug-2017
- Publisher
- Nature Publishing Group
- Citation
- Nature Genetics, v.49, no.8, pp 1231 - 1238
- Pages
- 8
- Indexed
- SCI
SCIE
SCOPUS
- Journal Title
- Nature Genetics
- Volume
- 49
- Number
- 8
- Start Page
- 1231
- End Page
- 1238
- URI
- https://scholarworks.bwise.kr/erica/handle/2021.sw.erica/114582
- DOI
- 10.1038/ng.3901
- ISSN
- 1061-4036
1546-1718
- Abstract
- Although next generation sequencing has revolutionised the ability to associate variants with human diseases, diagnostic rates and development of new therapies are still limited by our lack of knowledge of function and pathobiological mechanism for most genes. To address this challenge, the International Mouse Phenotyping Consortium (IMPC) is creating a genome- and phenome-wide catalogue of gene function by characterizing new knockout mouse strains across diverse biological systems through a broad set of standardised phenotyping tests, with all mice made readily available to the biomedical community. Analysing the first 3328 genes reveals models for 360 diseases including the first for type C Bernard-Soulier, Bardet-Biedl-5 and Gordon Holmes syndromes. 90% of our phenotype annotations are novel, providing the first functional evidence for 1092 genes and candidates in unsolved diseases such as Arrhythmogenic Right Ventricular Dysplasia 3. Finally, we describe our role in variant functional validation with the 100,000 Genomes and other projects.
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Collections - COLLEGE OF SCIENCE AND CONVERGENCE TECHNOLOGY > ERICA 의약생명과학과 > 1. Journal Articles
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