Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation
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- 作者：Yuya Kobayashi ; Shan Yang ; Keith Nykamp ; John Garcia ; Stephen E. Lincoln…
- 关键词：Allele ; frequency threshold ; Variant interpretation ; ExAC ; ACMG ISV guidelines
- 刊名：Genome Medicine
- 出版年：2017
- 出版时间：December 2017
- 年：2017
- 卷：9
- 期：1
- 全文大小：745KB
- 刊物主题：Human Genetics; Metabolomics; Bioinformatics; Medicine/Public Health, general; Cancer Research; Systems Biology;
- 出版者：BioMed Central
- ISSN：1756-994X
- 卷排序：9
文摘
BackgroundThe frequency of a variant in the general population is a key criterion used in the clinical interpretation of sequence variants. With certain exceptions, such as founder mutations, the rarity of a variant is a prerequisite for pathogenicity. However, defining the threshold at which a variant should be considered “too common” is challenging and therefore diagnostic laboratories have typically set conservative allele frequency thresholds.