Data Sources

AnVIL hosts data from the following programs and also allows users to submit their own data to the platform.

CCDG

The Centers for Common Disease Genomics are a collaborative large-scale genome sequencing effort to comprehensively identify rare risk and protective variants contributing to multiple common disease phenotypes.

CMG

The Centers for Mendelian Genomics is a multi-center collaboration aimed at identifying the genes responsible for Mendelian phenotypes by whole exome and whole genome sequencing

GTEx

The Genotype-Tissue Expression (GTEx) project is an ongoing effort to build a comprehensive public resource to study tissue-specific gene expression and regulation. Samples were collected from 54 non-diseased tissue sites across nearly 1000 individuals, primarily for molecular assays including WGS, WES, and RNA-Seq.

1000 G

The 1000 Genomes Project, launched in January 2008, is an international research effort to establish variation profiles across the human population. This open access data set continues to be a valuable resource to geneticists.

eMERGE

The Electronic and MEdical Records and Genomics project (eMERGE) is a national network organized and funded by the NHGRI that combines DNA biorepositories with electronic medical record (EMR) systems for large scale, high-throughput genetic research in support of implementing genomic medicine.

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