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Study

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Yale Center for Mendelian Genomics (Y CMG)

CMGphs000744.v4.p2dbGapdbGap FHIR

Description

Yale University is home to one of three national centers created by the NIH to study the genetics of rare inherited diseases. Researchers at Yale, the University of Washington, and a center operated jointly by Baylor and Johns Hopkins University will analyze the genomes of thousands of patients who suffer from more than 6,000 rare Mendelian disorders affecting more than 25 million individuals in US.

The Centers for Mendelian Genomics will apply next-generation sequencing and computational approaches to discover the genes and variants that underlie Mendelian disorders. The discovery of new genes that cause Mendelian conditions will expand our understanding about their biology to facilitate their diagnosis, and potentially indicate new treatments.

The Centers for Mendelian Genomics will provide free exome sequencing and analysis to collaborating investigators for qualified phenotypes. If you are interested in working with the CMG to discover the genetic basis of a Mendelian condition, please contact Yale Center (shrikant.mane@yale.edu) for further information.

Stats

5Cohorts
7,036Samples
6,536Participants
5.93 TBSize

Summary

Consent CodesDS-MC, DS-RARED, GRU, HMB, HMB-GSO
DiseasesMendelian
AccessControlled Access
Study DesignMendelian
Data TypesExome

Terra Workspaces

This study has been divided into the following workspaces by consent codes and optionally the originating laboratory.

Terra Workspace NameConsent CodeDiseaseAccessStudy DesignData TypeSamplesParticipantsSize (TB)
AnVIL_CMG_Yale_DS-MCDS-MCMendelianMendelianExome7472470.54
AnVIL_CMG_Yale_DS-RAREDDS-RAREDMendelianMendelianExome1711710.14
AnVIL_CMG_Yale_GRUGRUMendelianMendelianExome1,7311,7311.54
AnVIL_CMG_Yale_HMBHMBMendelianMendelianExome1241240.09
AnVIL_CMG_Yale_HMB-GSOHMB-GSOMendelianMendelianExome4,2634,2633.62