Center for Mendelian Genomics Data Release on the AnVIL Platform
November 04, 2025
A new release from the Broad’s Center for Mendelian Genomics (CMG) is now available in AnVIL for the broader scientific community (phs001272.v3.p1).
The Broad Center for Mendelian Genomics is a research study using next-generation sequencing and computational approaches to identify novel genes for Mendelian diseases. By discovering genes that cause Mendelian conditions, we will expand our understanding of their biology to facilitate diagnosis and new treatments. The following datasets are now available in AnVIL:
| Dataset | Number of Samples | Consent Code |
|---|---|---|
| AnVIL_CMG_Broad_Muscle_Beggs_WES | 275 | DS-Neurology, MDS |
| AnVIL_CMG_Broad_LymphDisease_Fajgenbaum_WES | 26 | GRU |
| AnVIL_CMG_Broad_Blood_Fleming_WES | 361 | DS (Bone Failure Disorders, MDS) |
| AnVIL_CMG_Broad_Blood_Gazda_WES | 83 | DS (Bone Failure Disorders, MDS) |
| AnVIL_CMG_Broad_Genitourinary_Hirschhorn_WES | 109 | HMB |
| AnVIL_CMG_Broad_Muscle_Kang_WES | 67 | DS - Neurology, MDS |
| AnVIL_CMG_Broad_Orphan_VCGS-White_WES | 971 | HMB, NPU, MDS |
Access requests for these controlled datasets are available through dbGaP under accession phs001272 and the data is available at https://explore.anvilproject.org/datasets or https://duos.org/datalibrary/anvil.
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