Broad Institute Center for Mendelian Genomics

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, , TBD, , , ,

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 Name	Consent Code	Disease	Access	Study Design	Data Type	Samples	Participants	Size (TB)
AnVIL_CMG_Broad_Blood_Fleming_WES	Consortia Access Only	Mendelian disorders	Consortium Access Only	Parent-Offspring Trios	Exome	0	0	0.00
AnVIL_CMG_Broad_Blood_Gazda_WES	DS-BFD-MDS	Mendelian disorders	Controlled Access	Parent-Offspring Trios	Exome	51	51	0.08
AnVIL_CMG_Broad_Blood_Gazda_WGS	DS-BFD-MDS	Mendelian disorders	Controlled Access	Parent-Offspring Trios	Whole Genome	0	0	0.00
AnVIL_CMG_Broad_Blood_Sankaran_WES	DS-BFD-MDS	Mendelian disorders	Controlled Access	Parent-Offspring Trios	Exome	310	277	0.56
AnVIL_CMG_Broad_Blood_Sankaran_WGS	DS-BFD-MDS	Mendelian disorders	Controlled Access	Parent-Offspring Trios	Whole Genome	96	96	1.61
ANVIL_CMG_BROAD_BRAIN_ENGLE_WES	TBD	Mendelian disorders	Controlled Access	TBD	Exome	473	473	0.40
AnVIL_CMG_Broad_Brain_Gleeson_WES	HMB-MDS	Mendelian disorders	Controlled Access	Parent-Offspring Trios	Exome	1,180	1,180	3.06
AnVIL_CMG_Broad_Brain_Gleeson_WGS	HMB-MDS	Mendelian disorders	Controlled Access	Parent-Offspring Trios	Whole Genome	0	0	0.00
AnVIL_CMG_Broad_Brain_Muntoni_WES	TBD	Mendelian disorders	Controlled Access	TBD	Exome	39	39	0.07
AnVIL_CMG_Broad_Brain_NeuroDev_WES	TBD	Mendelian disorders	Controlled Access	TBD	Exome	292	292	0.26
ANVIL_CMG_BROAD_BRAIN_SHERR_WGS	TBD	Mendelian disorders	Controlled Access	TBD	Whole Genome	3	3	0.04
AnVIL_CMG_Broad_Brain_Thaker_WES	TBD	Mendelian disorders	Controlled Access	TBD	Exome	46	46	0.05
ANVIL_CMG_BROAD_BRAIN_WALSH_WGS	TBD	Mendelian disorders	Controlled Access	TBD	TBD	0	0	0.00
AnVIL_CMG_Broad_Eye_Pierce_WGS	GRU	Mendelian disorders	Controlled Access	Parent-Offspring Trios	Whole Genome	35	35	0.64
AnVIL_CMG_Broad_Heart_PCGC-Tristani_WGS	Consortia Access Only	Mendelian disorders	Consortium Access Only	Parent-Offspring Trios	Whole Genome	79	79	1.26
AnVIL_CMG_Broad_Heart_Seidman_WES	DS-CSD-MDS	Mendelian disorders	Controlled Access	Parent-Offspring Trios	Exome	129	129	0.22
AnVIL_CMG_Broad_Heart_Seidman_WGS	DS-CSD-MDS	Mendelian disorders	Controlled Access	Parent-Offspring Trios	Whole Genome	0	0	0.00
AnVIL_CMG_Broad_Kidney_Hildebrandt_WES	Consortia Access Only	Mendelian disorders	Consortium Access Only	Parent-Offspring Trios	Exome	1,222	1,222	2.41
AnVIL_CMG_Broad_Kidney_Hildebrandt_WGS	Consortia Access Only	Mendelian disorders	Consortium Access Only	Parent-Offspring Trios	Whole Genome	27	27	0.52
AnVIL_CMG_Broad_Kidney_Pollak_WES	Consortia Access Only	Mendelian disorders	Consortium Access Only	Parent-Offspring Trios	Exome	147	147	0.25
AnVIL_CMG_Broad_Muscle_Beggs_WES	DS-NEURO-GSO-MDS	Mendelian disorders	Controlled Access	Parent-Offspring Trios	Exome	439	109	0.40
AnVIL_CMG_Broad_Muscle_Beggs_WGS	TBD	Mendelian disorders	Controlled Access	TBD	Whole Genome	0	0	0.83
AnVIL_CMG_Broad_Muscle_Bonnemann_WES	GRU	Mendelian disorders	Controlled Access	Parent-Offspring Trios	Exome	253	253	0.08
AnVIL_CMG_Broad_Muscle_Bonnemann_WGS	GRU	Mendelian disorders	Controlled Access	Parent-Offspring Trios	Whole Genome	94	94	1.65
AnVIL_CMG_Broad_Muscle_INMR-Cooper_WES	TBD	Mendelian disorders	Controlled Access	TBD	TBD	0	0	0.00
AnVIL_CMG_Broad_Muscle_Kang_WES	Consortia Access Only	Mendelian disorders	Consortium Access Only	Parent-Offspring Trios	Exome	49	49	0.10
AnVIL_CMG_Broad_Muscle_Kang_WGS	Consortia Access Only	Mendelian disorders	Consortium Access Only	Parent-Offspring Trios	Whole Genome	2	2	0.04
AnVIL_CMG_Broad_Muscle_Myoseq_WES	HMB-MDS	Mendelian disorders	Controlled Access	Parent-Offspring Trios	Exome	1,280	1,280	2.30
AnVIL_CMG_Broad_Orphan_Chung_WES	TBD	Mendelian disorders	Controlled Access	TBD	Exome	71	71	0.06
AnVIL_CMG_Broad_Orphan_Estonia-Ounap_WES	GRU	Mendelian disorders	Controlled Access	Parent-Offspring Trios	Exome	31	31	0.08
ANVIL_CMG_Broad_Orphan_Jueppner_WES	TBD	Mendelian disorders	Controlled Access	TBD	Exome	10	10	0.01
AnVIL_CMG_Broad_Orphan_Jueppner_WGS	TBD	Mendelian disorders	Controlled Access	TBD	TBD	0	0	0.00
AnVIL_CMG_Broad_Orphan_Lerner-Ellis_WES	TBD	Mendelian disorders	Controlled Access	TBD	Exome	10	10	0.01
AnVIL_CMG_Broad_Orphan_Lerner-Ellis_WGS	TBD	Mendelian disorders	Controlled Access	TBD	TBD	0	0	0.00
AnVIL_CMG_Broad_Orphan_Manton_WES	GRU	Mendelian disorders	Controlled Access	Parent-Offspring Trios	Exome	452	452	1.08
AnVIL_CMG_Broad_Orphan_Manton_WGS	GRU	Mendelian disorders	Controlled Access	Parent-Offspring Trios	Whole Genome	43	43	0.76
AnVIL_CMG_Broad_Orphan_Scott_WES	Consortia Access Only	Mendelian disorders	Consortium Access Only	Parent-Offspring Trios	Exome	237	236	0.31
ANVIL_CMG_BROAD_ORPHAN_SCOTT_WGS	TBD	Mendelian disorders	Controlled Access	TBD	Whole Genome	15	15	0.25
AnVIL_CMG_Broad_Orphan_Sweetser_WES	TBD	Mendelian disorders	Controlled Access	TBD	Exome	3	3	0.01
AnVIL_CMG_Broad_Orphan_VCGS-White_WES	HMB-MDS	Mendelian disorders	Controlled Access	Parent-Offspring Trios	Exome	677	447	1.06
AnVIL_CMG_Broad_Orphan_VCGS-White_WGS	HMB-MDS	Mendelian disorders	Controlled Access	Parent-Offspring Trios	Whole Genome	66	66	1.10
AnVIL_CMG_Broad_Rare_RGP_WES	TBD	Mendelian disorders	Controlled Access	TBD	Exome	6	6	0.01
AnVIL_CMG_Broad_Stillbirth_Wilkins-Haug_WES	TBD	Mendelian disorders	Controlled Access	TBD	Exome	60	60	0.08