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

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

PROVIDER: PRJNA605040 | ENA |

REPOSITORIES: ENA

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

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

| PRJNA605039 | ENA

NHLBI TOPMed: Trans-Omics for Precision Medicine for Congestive Heart Failure (TOPCHeF)

Project description:NHLBI TOPMed: Trans-Omics for Precision Medicine for Congestive Heart Failure (TOPCHeF)

| PRJNA635179 | ENA

NHLBI TOPMed: Trans-Omics for Precision Medicine for Congestive Heart Failure (TOPCHeF)

Project description:NHLBI TOPMed: Trans-Omics for Precision Medicine for Congestive Heart Failure (TOPCHeF)

| PRJNA635178 | ENA

Whole genome sequence analysis of platelet traits in the NHLBI Trans-Omics for Precision Medicine (TOPMed) initiative.

Project description:Platelets play a key role in thrombosis and hemostasis. Platelet count (PLT) and mean platelet volume (MPV) are highly heritable quantitative traits, with hundreds of genetic signals previously identified, mostly in European ancestry populations. We here utilize whole genome sequencing (WGS) from NHLBI's Trans-Omics for Precision Medicine initiative (TOPMed) in a large multi-ethnic sample to further explore common and rare variation contributing to PLT (n = 61 200) and MPV (n = 23 485). We identified and replicated secondary signals at MPL (rs532784633) and PECAM1 (rs73345162), both more common in African ancestry populations. We also observed rare variation in Mendelian platelet-related disorder genes influencing variation in platelet traits in TOPMed cohorts (not enriched for blood disorders). For example, association of GP9 with lower PLT and higher MPV was partly driven by a pathogenic Bernard-Soulier syndrome variant (rs5030764, p.Asn61Ser), and the signals at TUBB1 and CD36 were partly driven by loss of function variants not annotated as pathogenic in ClinVar (rs199948010 and rs571975065). However, residual signal remained for these gene-based signals after adjusting for lead variants, suggesting that additional variants in Mendelian genes with impacts in general population cohorts remain to be identified. Gene-based signals were also identified at several genome-wide association study identified loci for genes not annotated for Mendelian platelet disorders (PTPRH, TET2, CHEK2), with somatic variation driving the result at TET2. These results highlight the value of WGS in populations of diverse genetic ancestry to identify novel regulatory and coding signals, even for well-studied traits like platelet traits.

| S-EPMC8825339 | biostudies-literature

NHLBI TOPMed: Trans-Omics for Precision Medicine Whole Genome Sequencing Project: ARIC

Project description:<p> Participants from the Atherosclerosis Risk in Communities (ARIC) Study, a large population-based longitudinal cohort study, have been included in this Project and whole genome sequencing will be performed to contribute to analyses of early-onset atrial fibrillation and venous thromboembolism. Additional phenotype and genotype data are available for these individuals on dbGaP and can be accessed through the parent ARIC Cohort accession (phs000280.v3.p1). The National Heart, Lung and Blood Institute (NHLBI) Trans-Omics for Precision Medicine (TOPMed) program is designed to generate scientific resources to enhance understanding of fundamental biological processes that underlie heart, lung, blood and sleep disorders (HLBS). It is part of a broader Precision Medicine Initiative, which aims to provide disease treatments that are tailored to an individual's unique genes and environment. TOPMed will contribute to this initiative through the integration of whole genome sequencing (WGS) and other -omics (e.g., metabolic profiles, protein and RNA expression patterns) data with molecular, behavioral, imaging, environmental, and clinical data. In doing so this program seeks to uncover factors that increase or decrease the risk of disease, identify subtypes of disease, and develop more targeted and personalized treatments. The Whole Genome Sequencing (WGS) Project is part of NHLBI's TOPMed program and serves as an initial step for the larger initiative.</p>

| phs001211 | dbGaP

NHLBI TOPMed: Partners HealthCare Biobank

Project description:NHLBI TOPMed: Partners HealthCare Biobank

| PRJNA300701 | ENA

NHLBI TOPMed: The Framingham Heart Study

Project description:NHLBI TOPMed: The Framingham Heart Study

| PRJNA292476 | ENA

NHLBI TOPMed: Barbados Asthma Genetics Study

Project description:NHLBI TOPMed: Barbados Asthma Genetics Study

| PRJNA325183 | ENA

NHLBI TOPMed: Cardiovascular Health Study (CHS)

Project description:NHLBI TOPMed: Cardiovascular Health Study (CHS)