Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation
出版年份 2017 全文链接
标题
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation
作者
关键词
Allele-frequency threshold, Variant interpretation, ExAC, ACMG ISV guidelines
出版物
Genome Medicine
Volume 9, Issue 1, Pages -
出版商
Springer Nature
发表日期
2017-02-06
DOI
10.1186/s13073-017-0403-7
参考文献
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