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University of Washington Center for Mendelian Genomics (UW-CMG)
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
9Cohorts
3,558Samples
3,486Participants
56.90 TBSize
Summary
Consent CodesDS-BAV-IRB-PUB-PD, , , , , , , ,
DiseasesMendelian disorders
AccessControlled Access
Study DesignFamily/Twins/Trios, TBD
Data TypesExome
Applying For Access
dbGaP FAQdbGaP Access Request Video TutorialTerra 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_UWASH_DS-BAV-IRB-PUB-RD | DS-BAV-IRB-PUB-PD | Mendelian disorders | Controlled Access | Family/Twins/Trios | Exome | 177 | 177 | 0.60 |
ANVIL_CMG_UWASH_DS-BDIS | Mendelian disorders | Controlled Access | Family/Twins/Trios | Exome | 10 | 10 | 0.05 | |
AnVIL_CMG_UWash_DS-EP | Mendelian disorders | Controlled Access | Family/Twins/Trios | Exome | 49 | 49 | 1.43 | |
ANVIL_CMG_UWASH_DS-HFA | Mendelian disorders | Controlled Access | Family/Twins/Trios | Exome | 83 | 83 | 0.84 | |
ANVIL_CMG_UWASH_DS-NBIA | Mendelian disorders | Controlled Access | Family/Twins/Trios | Exome | 107 | 107 | 0.86 | |
AnVIL_CMG_UWash_GRU | Mendelian disorders | Controlled Access | TBD | Exome | 2,113 | 2,109 | 28.91 | |
AnVIL_CMG_UWash_GRU-IRB | Mendelian disorders | Controlled Access | Family/Twins/Trios | Exome | 559 | 504 | 9.69 | |
AnVIL_CMG_UWASH_HMB | Mendelian disorders | Controlled Access | Family/Twins/Trios | Exome | 419 | 406 | 7.39 | |
ANVIL_CMG_UWASH_HMB-IRB | Mendelian disorders | Controlled Access | Family/Twins/Trios | Exome | 41 | 41 | 7.15 |