Broad Institute Center for Mendelian Genomics

Platforms

AnVIL

View in dbGaP

APIs

Consent Codes

GRU, DS-KRD-RD, HMB-MDS, DS-NIC-EMP-LENF, DS-BFD-MDS, DS-NEUROLOGY-MDS, DS-CVD-MDS, GRU-IRB

Focus / Diseases

Genetic Diseases, Inborn

Study Design

Family/Twin/Trios

Data Types

RNA-Seq, SNP/CNV Genotypes (NGS), WGS, WXS

Subjects

1,031