2021
DOI: 10.1038/s41586-021-03205-y
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Abstract: The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of improving diagnosis, treatment and prevention of these diseases. The initial phases of the programme focused on whole-genome sequencing of individuals with rich phenotypic data and diverse backgrounds. Here we describe the TOPMed goals and design as well as the available resources and early insights obtained from the sequence data… Show more

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Cited by 1,065 publications
(399 citation statements)
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References 109 publications
(124 reference statements)
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“…Imputation was carried out on the quality assured dataset, containing 768 individuals (590 controls, 178 cases) and 446,353variants. Subsequently, 26,356,529 variants were imputed based on the TOPMed r2 panel 12 using the TOPMed Imputation Server 13 which employs Minimac4 for imputation. 14 A quality check was carried out, including variants with a MAF > 1%, an imputation quality score R 2 > 0.7, and no significant deviation from HWE (P < 1 × 10 −6 ) in controls, resulting in 8,073,349 variants.…”
Section: Methodsmentioning
confidence: 99%
“…Imputation was carried out on the quality assured dataset, containing 768 individuals (590 controls, 178 cases) and 446,353variants. Subsequently, 26,356,529 variants were imputed based on the TOPMed r2 panel 12 using the TOPMed Imputation Server 13 which employs Minimac4 for imputation. 14 A quality check was carried out, including variants with a MAF > 1%, an imputation quality score R 2 > 0.7, and no significant deviation from HWE (P < 1 × 10 −6 ) in controls, resulting in 8,073,349 variants.…”
Section: Methodsmentioning
confidence: 99%
“…Cleavage enzymes differently cleave the proglucagon precursor into distinct peptides. (B) Cross-sectional mutational landscape aggregated from three independent genomic sequencing efforts including gnomAD [122,439 exomes/13,304 genomes, excluding individuals also found in TOPMed (12)], UK Biobank [200,629 exomes (13)], and TOPMed [132,345 genomes (14)] leading to a total set of 184 unique missense variants spanning 117 positions found in a total set of 468,717 unique individuals (SI2). (C) Allele frequency (AF) spectrum of variants found in one, two, or all three cohorts respectively.…”
Section: Introductionmentioning
confidence: 99%
“…Meanwhile, in the same study, individuals with CH were found to have a shorter average telomere length than individuals without CH 10 . An analysis of the NHLBI Trans-Omics for Precision Medicine (TOPMed) 119 cohort in the USA recapitulated the association between rs34002450 and CHIP (OR = 1.3), although this study identified a different lead SNP (rs7705526; MAF = 0.29; r 2 = 0.55 with rs34002450) as well as a second SNP in TERT that was independently associated with CHIP (rs13167280; OR = 1.3; MAF = 0.11; r 2 = 0.2 with rs7705526) 27 . Additionally, an analysis of the UKB similarly identified associations with CHIP for an SNP in linkage disequilibrium with rs34002450 (rs7726159; OR = 1.33; MAF = 0.33; r 2 = 0.70 with rs34002450) and for a second independent SNP in TERT (rs2853677; OR = 1.32; MAF = 0.42) 18 .…”
Section: Results From Genetic Association Studiesmentioning
confidence: 99%