gnomAD——Broad Institute的变异数据库又一力作

旭日早升

网址： http://gnomad.broadinstitute.org/
简介(20170721)：The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects, and making summary data available for the wider scientific community. The data set provided on this website spans 123,136 exome sequences and 15,496 whole-genome sequences from unrelated individuals sequenced as part of various disease-specific and population genetic studies.
使用：首页提供检索口，可以直接检索基因、variant或者region，结果会提供基本信息、coverage信息及variant的具体信息等。另外提供下载vcf文件。数据量大，数据使用上也没有太多限制。
缺陷：没有提供原始数据下载，没有phenotype的数据提供，不能保证所有个体都没有你关心的疾病。