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 Name | Consent Code | Disease | Access | Study Design | Data Type | Samples | Participants | Size (TB) |
|---|---|---|---|---|---|---|---|---|
| AnVIL_CMG_Broad_Blood_Gazda_WES | DS-BFD-MDS | Mendelian | Controlled Access | Family/Twin/Trios | Exome | 51 | 51 | 0.08 |
| AnVIL_CMG_Broad_Blood_Sankaran_WES | DS-BFD-MDS | Mendelian | Controlled Access | Family/Twin/Trios | Exome | 310 | 277 | 0.56 |
| AnVIL_CMG_Broad_Blood_Sankaran_WGS | DS-BFD-MDS | Mendelian | Controlled Access | Family/Twin/Trios | Whole Genome | 96 | 0 | 1.61 |
| AnVIL_CMG_Broad_Brain_Gleeson_WES | HMB-MDS | Mendelian | Controlled Access | Family/Twin/Trios | Exome | 1,181 | 1,181 | 3.06 |
| AnVIL_CMG_Broad_Eye_Pierce_WGS | GRU | Mendelian | Controlled Access | Family/Twin/Trios | Whole Genome | 35 | 35 | 0.64 |
| AnVIL_CMG_Broad_Heart_PCGC-Tristani_WGS | not applicable | Mendelian | Consortium Access | Family/Twin/Trios | Whole Genome | 79 | 45 | 1.26 |
| AnVIL_CMG_Broad_Heart_Seidman_WES | DS-CSD-MDS | Mendelian | Controlled Access | Family/Twin/Trios | Exome | 129 | 129 | 0.22 |
| AnVIL_CMG_Broad_Kidney_Hildebrandt_WES | not applicable | Mendelian | Consortium Access | Family/Twin/Trios | Exome | 1,222 | 1,222 | 2.41 |
| AnVIL_CMG_Broad_Kidney_Hildebrandt_WGS | not applicable | Mendelian | Consortium Access | Family/Twin/Trios | Whole Genome | 27 | 27 | 0.52 |
| AnVIL_CMG_Broad_Kidney_Pollak_WES | not applicable | Mendelian | Consortium Access | Family/Twin/Trios | Exome | 147 | 0 | 0.26 |
| AnVIL_CMG_Broad_Muscle_Beggs_WES | DS-NEURO-GSO-MDS | Mendelian | Controlled Access | Family/Twin/Trios | Exome | 439 | 109 | 0.40 |
| AnVIL_CMG_Broad_Muscle_Bonnemann_WES | GRU | Mendelian | Controlled Access | Family/Twin/Trios | Exome | 253 | 24 | 0.09 |
| AnVIL_CMG_Broad_Muscle_Bonnemann_WGS | GRU | Mendelian | Controlled Access | Family/Twin/Trios | Whole Genome | 94 | 94 | 1.65 |
| AnVIL_CMG_Broad_Muscle_Kang_WES | not applicable | Mendelian | Consortium Access | Family/Twin/Trios | Exome | 49 | 49 | 0.10 |
| AnVIL_CMG_Broad_Muscle_Kang_WGS | not applicable | Mendelian | Consortium Access | Family/Twin/Trios | Whole Genome | 2 | 2 | 0.04 |
| AnVIL_CMG_Broad_Muscle_Myoseq_WES | HMB-MDS | Mendelian | Controlled Access | Family/Twin/Trios | Exome | 1,280 | 1,280 | 2.30 |
| AnVIL_CMG_Broad_Orphan_Estonia-Ounap_WES | GRU | Mendelian | Controlled Access | Family/Twin/Trios | Exome | 31 | 25 | 0.08 |
| AnVIL_CMG_Broad_Orphan_Manton_WES | GRU | Mendelian | Controlled Access | Family/Twin/Trios | Exome | 452 | 268 | 1.08 |
| AnVIL_CMG_Broad_Orphan_Manton_WGS | GRU | Mendelian | Controlled Access | Family/Twin/Trios | Whole Genome | 43 | 7 | 0.76 |
| AnVIL_CMG_Broad_Orphan_Scott_WES | not applicable | Mendelian | Consortium Access | Family/Twin/Trios | Exome | 237 | 0 | 0.31 |
| AnVIL_CMG_Broad_Orphan_VCGS-White_WES | HMB-MDS | Mendelian | Controlled Access | Family/Twin/Trios | Exome | 677 | 447 | 1.06 |
| AnVIL_CMG_Broad_Orphan_VCGS-White_WGS | HMB-MDS | Mendelian | Controlled Access | Family/Twin/Trios | Whole Genome | 66 | 66 | 1.10 |
