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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

43Cohorts
7,927Samples
7,333Participants
21.65 TBSize

Summary

Consent CodesConsortia Access Only, DS-BFD-MDS, TBD, HMB-MDS, GRU, DS-CSD-MDS, DS-NEURO-GSO-MDS
DiseasesMendelian disorders
AccessConsortium Access Only, Controlled Access
Study DesignParent-Offspring Trios, TBD
Data TypesExome, Whole Genome, TBD

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_Fleming_WESConsortia Access OnlyMendelian disordersParent-Offspring TriosExome000.00
AnVIL_CMG_Broad_Blood_Gazda_WESDS-BFD-MDSMendelian disordersParent-Offspring TriosExome51510.08
AnVIL_CMG_Broad_Blood_Gazda_WGSDS-BFD-MDSMendelian disordersParent-Offspring TriosWhole Genome000.00
AnVIL_CMG_Broad_Blood_Sankaran_WESDS-BFD-MDSMendelian disordersParent-Offspring TriosExome3102770.56
AnVIL_CMG_Broad_Blood_Sankaran_WGSDS-BFD-MDSMendelian disordersParent-Offspring TriosWhole Genome96961.61
ANVIL_CMG_BROAD_BRAIN_ENGLE_WESTBDMendelian disordersTBDExome4734730.40
AnVIL_CMG_Broad_Brain_Gleeson_WESHMB-MDSMendelian disordersParent-Offspring TriosExome1,1801,1803.06
AnVIL_CMG_Broad_Brain_Gleeson_WGSHMB-MDSMendelian disordersParent-Offspring TriosWhole Genome000.00
AnVIL_CMG_Broad_Brain_Muntoni_WESTBDMendelian disordersTBDExome39390.07
AnVIL_CMG_Broad_Brain_NeuroDev_WESTBDMendelian disordersTBDExome2922920.26
ANVIL_CMG_BROAD_BRAIN_SHERR_WGSTBDMendelian disordersTBDWhole Genome330.04
AnVIL_CMG_Broad_Brain_Thaker_WESTBDMendelian disordersTBDExome46460.05
ANVIL_CMG_BROAD_BRAIN_WALSH_WGSTBDMendelian disordersTBDTBD000.00
AnVIL_CMG_Broad_Eye_Pierce_WGSGRUMendelian disordersParent-Offspring TriosWhole Genome35350.64
AnVIL_CMG_Broad_Heart_PCGC-Tristani_WGSConsortia Access OnlyMendelian disordersParent-Offspring TriosWhole Genome79791.26
AnVIL_CMG_Broad_Heart_Seidman_WESDS-CSD-MDSMendelian disordersParent-Offspring TriosExome1291290.22
AnVIL_CMG_Broad_Heart_Seidman_WGSDS-CSD-MDSMendelian disordersParent-Offspring TriosWhole Genome000.00
AnVIL_CMG_Broad_Kidney_Hildebrandt_WESConsortia Access OnlyMendelian disordersParent-Offspring TriosExome1,2221,2222.41
AnVIL_CMG_Broad_Kidney_Hildebrandt_WGSConsortia Access OnlyMendelian disordersParent-Offspring TriosWhole Genome27270.52
AnVIL_CMG_Broad_Kidney_Pollak_WESConsortia Access OnlyMendelian disordersParent-Offspring TriosExome1471470.25
AnVIL_CMG_Broad_Muscle_Beggs_WESDS-NEURO-GSO-MDSMendelian disordersParent-Offspring TriosExome4391090.40
AnVIL_CMG_Broad_Muscle_Beggs_WGSTBDMendelian disordersTBDWhole Genome000.83
AnVIL_CMG_Broad_Muscle_Bonnemann_WESGRUMendelian disordersParent-Offspring TriosExome2532530.08
AnVIL_CMG_Broad_Muscle_Bonnemann_WGSGRUMendelian disordersParent-Offspring TriosWhole Genome94941.65
AnVIL_CMG_Broad_Muscle_INMR-Cooper_WESTBDMendelian disordersTBDTBD000.00
AnVIL_CMG_Broad_Muscle_Kang_WESConsortia Access OnlyMendelian disordersParent-Offspring TriosExome49490.10
AnVIL_CMG_Broad_Muscle_Kang_WGSConsortia Access OnlyMendelian disordersParent-Offspring TriosWhole Genome220.04
AnVIL_CMG_Broad_Muscle_Myoseq_WESHMB-MDSMendelian disordersParent-Offspring TriosExome1,2801,2802.30
AnVIL_CMG_Broad_Orphan_Chung_WESTBDMendelian disordersTBDExome71710.06
AnVIL_CMG_Broad_Orphan_Estonia-Ounap_WESGRUMendelian disordersParent-Offspring TriosExome31310.08
ANVIL_CMG_Broad_Orphan_Jueppner_WESTBDMendelian disordersTBDExome10100.01
AnVIL_CMG_Broad_Orphan_Jueppner_WGSTBDMendelian disordersTBDTBD000.00
AnVIL_CMG_Broad_Orphan_Lerner-Ellis_WESTBDMendelian disordersTBDExome10100.01
AnVIL_CMG_Broad_Orphan_Lerner-Ellis_WGSTBDMendelian disordersTBDTBD000.00
AnVIL_CMG_Broad_Orphan_Manton_WESGRUMendelian disordersParent-Offspring TriosExome4524521.08
AnVIL_CMG_Broad_Orphan_Manton_WGSGRUMendelian disordersParent-Offspring TriosWhole Genome43430.76
AnVIL_CMG_Broad_Orphan_Scott_WESConsortia Access OnlyMendelian disordersParent-Offspring TriosExome2372360.31
ANVIL_CMG_BROAD_ORPHAN_SCOTT_WGSTBDMendelian disordersTBDWhole Genome15150.25
AnVIL_CMG_Broad_Orphan_Sweetser_WESTBDMendelian disordersTBDExome330.01
AnVIL_CMG_Broad_Orphan_VCGS-White_WESHMB-MDSMendelian disordersParent-Offspring TriosExome6774471.06
AnVIL_CMG_Broad_Orphan_VCGS-White_WGSHMB-MDSMendelian disordersParent-Offspring TriosWhole Genome66661.10
AnVIL_CMG_Broad_Rare_RGP_WESTBDMendelian disordersTBDExome660.01
AnVIL_CMG_Broad_Stillbirth_Wilkins-Haug_WESTBDMendelian disordersTBDExome60600.08