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Study

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Broad Institute Center for Mendelian Genomics

CMGphs001272.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.

Stats

22Cohorts
6,900Samples
5,338Participants
19.57 TBSize

Summary

Consent CodesDS-BFD-MDS, HMB-MDS, GRU, not applicable, DS-CSD-MDS, DS-NEURO-GSO-MDS
DiseasesMendelian
AccessControlled Access, Consortium Access
Study DesignFamily/Twin/Trios
Data TypesExome, Whole Genome

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_Broad_Blood_Gazda_WESDS-BFD-MDSMendelianFamily/Twin/TriosExome51510.08
AnVIL_CMG_Broad_Blood_Sankaran_WESDS-BFD-MDSMendelianFamily/Twin/TriosExome3102770.56
AnVIL_CMG_Broad_Blood_Sankaran_WGSDS-BFD-MDSMendelianFamily/Twin/TriosWhole Genome9601.61
AnVIL_CMG_Broad_Brain_Gleeson_WESHMB-MDSMendelianFamily/Twin/TriosExome1,1811,1813.06
AnVIL_CMG_Broad_Eye_Pierce_WGSGRUMendelianFamily/Twin/TriosWhole Genome35350.64
AnVIL_CMG_Broad_Heart_PCGC-Tristani_WGSnot applicableMendelianFamily/Twin/TriosWhole Genome79451.26
AnVIL_CMG_Broad_Heart_Seidman_WESDS-CSD-MDSMendelianFamily/Twin/TriosExome1291290.22
AnVIL_CMG_Broad_Kidney_Hildebrandt_WESnot applicableMendelianFamily/Twin/TriosExome1,2221,2222.41
AnVIL_CMG_Broad_Kidney_Hildebrandt_WGSnot applicableMendelianFamily/Twin/TriosWhole Genome27270.52
AnVIL_CMG_Broad_Kidney_Pollak_WESnot applicableMendelianFamily/Twin/TriosExome14700.26
AnVIL_CMG_Broad_Muscle_Beggs_WESDS-NEURO-GSO-MDSMendelianFamily/Twin/TriosExome4391090.40
AnVIL_CMG_Broad_Muscle_Bonnemann_WESGRUMendelianFamily/Twin/TriosExome253240.09
AnVIL_CMG_Broad_Muscle_Bonnemann_WGSGRUMendelianFamily/Twin/TriosWhole Genome94941.65
AnVIL_CMG_Broad_Muscle_Kang_WESnot applicableMendelianFamily/Twin/TriosExome49490.10
AnVIL_CMG_Broad_Muscle_Kang_WGSnot applicableMendelianFamily/Twin/TriosWhole Genome220.04
AnVIL_CMG_Broad_Muscle_Myoseq_WESHMB-MDSMendelianFamily/Twin/TriosExome1,2801,2802.30
AnVIL_CMG_Broad_Orphan_Estonia-Ounap_WESGRUMendelianFamily/Twin/TriosExome31250.08
AnVIL_CMG_Broad_Orphan_Manton_WESGRUMendelianFamily/Twin/TriosExome4522681.08
AnVIL_CMG_Broad_Orphan_Manton_WGSGRUMendelianFamily/Twin/TriosWhole Genome4370.76
AnVIL_CMG_Broad_Orphan_Scott_WESnot applicableMendelianFamily/Twin/TriosExome23700.31
AnVIL_CMG_Broad_Orphan_VCGS-White_WESHMB-MDSMendelianFamily/Twin/TriosExome6774471.06
AnVIL_CMG_Broad_Orphan_VCGS-White_WGSHMB-MDSMendelianFamily/Twin/TriosWhole Genome66661.10