Journal
NATURE
Volume 508, Issue 7497, Pages 469-476Publisher
NATURE RESEARCH
DOI: 10.1038/nature13127
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Funding
- NHGRI NIH HHS [R01 HG007022, U01 HG007301, U54 HG006997] Funding Source: Medline
- NHLBI NIH HHS [R01 HL117626] Funding Source: Medline
- NIDDK NIH HHS [P30 DK020595] Funding Source: Medline
- NIMH NIH HHS [R01 MH101810] Funding Source: Medline
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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.
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