Guidelines for investigating causality of sequence variants in human disease

Nature64.80
Volume: 508, Issue: 7497, Pages: 469 - 476
Published: Apr 24, 2014
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...
Paper Details
Title
Guidelines for investigating causality of sequence variants in human disease
Published Date
Apr 24, 2014
Journal
Volume
508
Issue
7497
Pages
469 - 476
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