NCPI
NIH Cloud PlatformInteroperability Effort
searchclose
YouYubeGitHubSlack

Study

arrow_backDatasets

Broad Institute Center for Mendelian Genomics

phs001272.v1.p1dbGapdbGap FHIR

Description

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.

Summary

PlatformsAnVIL
Consent CodesGRU, DS-KRD-RD, HMB-MDS, DS-NIC-EMP-LENF
Focus / DiseasesGenetic Diseases, Inborn
Study DesignFamily/Twin/Trios
Data TypesRNA-Seq, SNP/CNV Genotypes (NGS), WGS, WXS
Subjects1,031