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Guidelines for investigating causality of sequence variants in human disease

MacArthur, D G
Manolio, T A
Dimmock, D P
Rehm, H L
Shendure, J
Abecasis, G R
Adams, D R
Altman, R B
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Published in Nature. 2014, vol. 508, no. 7497, p. 469-76
Abstract 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.
Keywords DiseaseFalse Positive ReactionsGenes/geneticsGenetic Predisposition to Disease/geneticsGenetic Variation/geneticsGuidelines as TopicHumansInformation DisseminationPublishingReproducibility of ResultsResearch DesignTranslational Medical Research/standards
PMID: 24759409
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Article (Published version) (145 Kb) - public document Free access
Research group Pathologie Moléculaire de la Trisomie 21 et le Génome Humain (248)
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MACARTHUR, D G et al. Guidelines for investigating causality of sequence variants in human disease. In: Nature, 2014, vol. 508, n° 7497, p. 469-76. doi: 10.1038/nature13127 https://archive-ouverte.unige.ch/unige:42274

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Deposited on : 2014-11-28

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