دورية أكاديمية
Guidelines for investigating causality of sequence variants in human disease
| العنوان: | Guidelines for investigating causality of sequence variants in human disease |
|---|---|
| المؤلفون: | MacArthur, D G, Manolio, T A, Dimmock, D P, Rehm, H L, Shendure, J, Abecasis, G R, Adams, D R, Altman, R B, Antonarakis, Stylianos, Ashley, E A, Barrett, J C, Biesecker, L G, Conrad, D F, Cooper, G M, Cox, N J, Daly, M J, Gerstein, M B, Goldstein, D B, Hirschhorn, J N, Leal, S M, Pennacchio, L A, Stamatoyannopoulos, J A, Sunyaev, S R, Valle, D, Voight, B F, Winckler, W, Gunter, C |
| المصدر: | ISSN: 0028-0836 ; Nature, vol. 508, no. 7497 (2014) p. 469-476. |
| سنة النشر: | 2014 |
| المجموعة: | Université de Genève: Archive ouverte UNIGE |
| مصطلحات موضوعية: | info:eu-repo/classification/ddc/576.5, Disease, False Positive Reactions, Genes/genetics, Genetic Predisposition to Disease/genetics, Genetic Variation/genetics, Guidelines as Topic, Humans, Information Dissemination, Publishing, Reproducibility of Results, Research Design, Translational Medical Research/standards |
| الوصف: | The 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. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| العلاقة: | info:eu-repo/semantics/altIdentifier/pmid/24759409; https://archive-ouverte.unige.ch/unige:42274Test; unige:42274 |
| الإتاحة: | https://doi.org/10.1038/nature13127Test https://archive-ouverte.unige.ch/unige:42274Test |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.BCCCA2AC |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |