المساهمون: Rehm, Heidi [Broad Inst. of Harvard and MIT, Cambridge, MA (United States); Harvard Univ., Boston, MA (United States). Harvard Medical School; Partners Personalized Medicine, Boston, MA (United States). Lab. for Molecular Medicine; Brigham and Women's Hospital, Boston, MA (United States). Dept. of Pathology]

المصدر: Human Mutation; 36; 10

وصف الملف: Medium: ED; Size: p. 915-921

URL الوصول: http://www.osti.gov/scitech/servlets/purl/1377611

المؤلفون: Christopher J. Mungall, Nara Sobreira, Melissa A. Haendel, Ganesh J. Swaminathan, Michael Brudno, Peter N. Robinson, Anthony J. Brookes, Kym M. Boycott, Sharon F. Terry, Ada Hamosh, Benedict Paten, Knox Carey, Andriy Misyura, Heidi L. Rehm, Danielle R. Azzariti, Peter E.M. Taschner, Matthew E. Hurles, Johan T. den Dunnen, Catherine A. Brownstein, Richard A. Gibbs, Nicole L. Washington, Michael A. Gonzalez, Cassie Doll, Justin Paschall, Helen V. Firth, Orion J. Buske, Sergiu Dumitriu, Marta Girdea, Ben Hutton, Han G. Brunner, Stephan Züchner, Joel B. Krier, Lijia Huang, Stephanie O.M. Dyke, Anthony A. Philippakis, Sergi Beltran, François Schiettecatte, Ingrid A. Holm

المساهمون: MUMC+: DA Klinische Genetica (5), RS: GROW - Developmental Biology, RS: GROW - R4 - Reproductive and Perinatal Medicine

المصدر: Philippakis, AA; Azzariti, DR; Beltran, S; Brookes, AJ; Brownstein, CA; Brudno, M; et al.(2015). The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery. Human Mutation, 36(10), 915-921. doi: 10.1002/humu.22858. Lawrence Berkeley National Laboratory: Lawrence Berkeley National Laboratory. Retrieved from: http://www.escholarship.org/uc/item/2mv1v458
Human mutation, vol 36, iss 10
Human Mutation, 36(10), 915-921
Human Mutation, 36(10), 915-921. Wiley
Human Mutation, 36, 915-21
Human Mutation, 36, 10, pp. 915-21

مصطلحات موضوعية: IRDiRC, Clinical Sciences, Information Dissemination, rare disease, Biology, Bioinformatics, genomic API, Article, World Wide Web, Databases, Rare Diseases, Genetic, matchmaking, Databases, Genetic, Genetics, Humans, Genetic Predisposition to Disease, human, gene, genome, Genetics (clinical), Genetic Association Studies, Pace, Genetics & Heredity, Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], Application programming interface, Serendipity, Human Genome, GA4GH, gene discovery, sequence, 3. Good health, Data sharing, Matchmaker Exchange, GA4GH, IRDiRC, Scalability, Database Management Systems, Haystack, Software, Rare disease

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3674b7124c7ae62b984c8bc1cf290e80
https://doi.org/10.1002/humu.22858

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