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dc.contributor.authorMacArthur, D. G.en_US
dc.contributor.authorManolio, T. A.en_US
dc.contributor.authorDimmock, D. P.en_US
dc.contributor.authorRehm, H. L.en_US
dc.contributor.authorShendure, J.en_US
dc.contributor.authorAbecasis, G. R.en_US
dc.contributor.authorAdams, D. R.en_US
dc.contributor.authorAltman, R. B.en_US
dc.contributor.authorAntonarakis, S. E.en_US
dc.contributor.authorAshley, E. A.en_US
dc.contributor.authorBarrett, J. C.en_US
dc.contributor.authorBiesecker, L. G.en_US
dc.contributor.authorConrad, D. F.en_US
dc.contributor.authorCooper, G. M.en_US
dc.contributor.authorCox, N. J.en_US
dc.contributor.authorDaly, M. J.en_US
dc.contributor.authorGerstein, M. B.en_US
dc.contributor.authorGoldstein, D. B.en_US
dc.contributor.authorHirschhorn, J. N.en_US
dc.contributor.authorLeal, S. M.en_US
dc.contributor.authorPennacchio, L. A.en_US
dc.contributor.authorStamatoyannopoulos, J. A.en_US
dc.contributor.authorSunyaev, S. R.en_US
dc.contributor.authorValle, D.en_US
dc.contributor.authorVoight, B. F.en_US
dc.contributor.authorWinckler, W.en_US
dc.contributor.authorGunter, C.en_US
dc.date.accessioned2014-11-03T17:40:51Z
dc.date.issued2014en_US
dc.identifier.citationMacArthur, D. G., T. A. Manolio, D. P. Dimmock, H. L. Rehm, J. Shendure, G. R. Abecasis, D. R. Adams, et al. 2014. “Guidelines for investigating causality of sequence variants in human disease.” Nature 508 (7497): 469-476. doi:10.1038/nature13127. http://dx.doi.org/10.1038/nature13127.en
dc.identifier.issn0028-0836en
dc.identifier.urihttp://nrs.harvard.edu/urn-3:HUL.InstRepos:13347663
dc.description.abstractThe discovery of rare genetic variants is accelerating, and clear guidelines for distinguishing disease-causing sequence variants from the many potentially functional variants present in any human genome are urgently needed. Without rigorous standards we risk an acceleration of false-positive reports of causality, which would impede the translation of genomic research findings into the clinical diagnostic setting and hinder biological understanding of disease. Here we discuss the key challenges of assessing sequence variants in human disease, integrating both gene-level and variant-level support for causality. We propose guidelines for summarizing confidence in variant pathogenicity and highlight several areas that require further resource development.en
dc.language.isoen_USen
dc.relation.isversionofdoi:10.1038/nature13127en
dc.relation.hasversionhttp://www.ncbi.nlm.nih.gov/pmc/articles/PMC4180223/pdf/en
dash.licenseLAAen_US
dc.titleGuidelines for investigating causality of sequence variants in human diseaseen
dc.typeJournal Articleen_US
dc.description.versionVersion of Recorden
dc.relation.journalNatureen
dc.date.available2014-11-03T17:40:51Z
dc.identifier.doi10.1038/nature13127*
dash.authorsorderedfalse


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