AnVIL
NHGRI Analysis Visualizationand Informatics Lab-space
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Study

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Genetic Neuroscience

Convergent Neurophs002032.v1.p1dbGapdbGap FHIR

Description

The goal of our collaborative, interdisciplinary effort is to develop powerful, generalizable approaches for discovering how risk variants for psychiatric disorders shape neurobiological processes at multiple levels of analysis, and to identify the processes whose dysregulation underlies disease. To do this, we propose to develop new experimental and inferential systems to bridge a longstanding gap between human genetics and experimental biology.

Induced pluripotent stem cells (iPSCs) are being widely adopted for disease modeling and cellular genetic studies. The largest publicly available collection of iPSCS has been generated from 2,500 donors by the California Institute for Regenerative Medicine. We wish to share genetic-variation data we have generated for the CIRM iPSC donors. These data can be used to identify (for experiments) lines with specific genotypes of interest and lines from donors with high or low polygenic risk scores for phenotypes of interest. The data can also be used to identify acquired mutations in the iPSC lines.

Stats

2Cohorts
304Samples
304Participants
5.32 TBSize

Summary

Consent CodesGRU, DS-SMA-MDS
DiseasesSpinal Muscular Atrophy
AccessControlled Access
Study DesignProspective Longitudinal Cohort
Data TypesWhole Genome

Terra Workspaces

This study has been divided into the following workspaces by consent codes and optionally the originating laboratory.

Terra Workspace NameConsent CodeDiseaseAccessStudy DesignData TypeSamplesParticipantsSize (TB)
AnVIL_NIMH_Broad_ConvergentNeuro_McCarroll_Eggan_CIRM_GRU_WGSGRU--Prospective Longitudinal CohortWhole Genome3033035.30
AnVIL_NIMH_Broad_ConvergentNeuro_McCarroll_Eggan_Finkel_SMA_DS_WGSDS-SMA-MDSSpinal Muscular AtrophyProspective Longitudinal CohortWhole Genome110.02