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 | Mendelian disorders | Controlled Access | Parent-Offspring Trios | Exome | 51 | 51 | 0.08 | |
AnVIL_CMG_Broad_Blood_Gazda_WGS | Mendelian disorders | Controlled Access | Parent-Offspring Trios | Whole Genome | 0 | 0 | 0.00 | |
AnVIL_CMG_Broad_Blood_Sankaran_WES | Mendelian disorders | Controlled Access | Parent-Offspring Trios | Exome | 310 | 277 | 0.56 | |
AnVIL_CMG_Broad_Blood_Sankaran_WGS | 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 | Mendelian disorders | Controlled Access | Parent-Offspring Trios | Exome | 1,180 | 1,180 | 3.06 | |
AnVIL_CMG_Broad_Brain_Gleeson_WGS | 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 | 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 | Mendelian disorders | Controlled Access | Parent-Offspring Trios | Exome | 129 | 129 | 0.22 | |
AnVIL_CMG_Broad_Heart_Seidman_WGS | 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 | 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 | Mendelian disorders | Controlled Access | Parent-Offspring Trios | Exome | 253 | 253 | 0.08 | |
AnVIL_CMG_Broad_Muscle_Bonnemann_WGS | 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 | 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 | 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 | Mendelian disorders | Controlled Access | Parent-Offspring Trios | Exome | 452 | 452 | 1.08 | |
AnVIL_CMG_Broad_Orphan_Manton_WGS | 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 | Mendelian disorders | Controlled Access | Parent-Offspring Trios | Exome | 677 | 447 | 1.06 | |
AnVIL_CMG_Broad_Orphan_VCGS-White_WGS | 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 |