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NHLBI TOPMed: Genomic Summary Results for the Trans-Omics for Precision Medicine Program

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DataCite Commons2026-04-09 更新2026-05-04 收录
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https://gen3.biodatacatalyst.nhlbi.nih.gov/discovery/phs001974.v8.p1.c1/
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The NHLBI Trans-Omics for Precision Medicine (TOPMed) program aims to identify the genetic basis of variation in biomedical phenotypes, with emphasis on those related to heart, lung, blood and sleep disorders, as part of a broader [Precision Medicine Initiative](https://www.nhlbi.nih.gov/science/precision-medicine-activities). The TOPMed program has provided whole genome sequencing (WGS) to over 80 different studies that had previously recruited participants and collected extensive phenotype data. Many TOPMed investigators affiliated with these studies have organized their activities into phenotype-focused Working Groups and have developed genotype-phenotype association projects. These analyses have resulted in valuable cross-study Genomic Summary Results (GSR) that include whole genome association test results of both common and rare variants. Most of the analyses include data from multiple studies, some of which are based on sensitive populations, precluding public sharing of GSR. This dbGaP accession provides a mechanism for sharing sensitive GSR, using the controlled-access mechanisms of dbGaP to provide protections for sensitive populations.
提供机构:
NHLBI BioData Catalyst
创建时间:
2025-08-12
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