NCPI Dataset Catalog

Broad Institute Center for Mendelian Genomics

The Centers for Mendelian Genomics project uses next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian conditions. By discovering genes that cause Mendelian conditions, we will expand our understanding of their biology to facilitate diagnosis and new treatments.

dbGaP FAQdbGaP Access Request Video Tutorial
PlatformsAnVIL
View in AnVIL

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