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

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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_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	DS-BDIS	Mendelian disorders	Controlled Access	Family/Twins/Trios	Exome	10	10	0.05
AnVIL_CMG_UWash_DS-EP	DS-EP	Mendelian disorders	Controlled Access	Family/Twins/Trios	Exome	49	49	1.43
ANVIL_CMG_UWASH_DS-HFA	DS-HFA	Mendelian disorders	Controlled Access	Family/Twins/Trios	Exome	83	83	0.84
ANVIL_CMG_UWASH_DS-NBIA	DS-NBIA	Mendelian disorders	Controlled Access	Family/Twins/Trios	Exome	107	107	0.86
AnVIL_CMG_UWash_GRU	GRU	Mendelian disorders	Controlled Access	TBD	Exome	2,113	2,109	28.91
AnVIL_CMG_UWash_GRU-IRB	GRU-IRB	Mendelian disorders	Controlled Access	Family/Twins/Trios	Exome	559	504	9.69
AnVIL_CMG_UWASH_HMB	HMB	Mendelian disorders	Controlled Access	Family/Twins/Trios	Exome	419	406	7.39
ANVIL_CMG_UWASH_HMB-IRB	HMB-IRB	Mendelian disorders	Controlled Access	Family/Twins/Trios	Exome	41	41	7.15