ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants
出版年份 2017 全文链接
标题
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants
作者
关键词
Genome sequencing, Exome sequencing, Clinical genome sequencing, Clinical exome sequencing, ACMG guidelines, ClinVar, ClinGen, Clinical Genome Resource, Knowledge commons, Data commons, Data sharing, Linked Data, Big Data
出版物
Genome Medicine
Volume 9, Issue 1, Pages -
出版商
Springer Nature
发表日期
2017-01-12
DOI
10.1186/s13073-016-0391-z
参考文献
相关参考文献
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