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Article

TOP-LD: A tool to explore linkage disequilibrium with TOPMed whole-genome sequence data.

American journal of human genetics - 2 Jun 2022

Huang Le, Rosen Jonathan D, Sun Quan, Chen Jiawen, Wheeler Marsha M, Zhou Ying, Min Yuan-I, Kooperberg Charles, Conomos Matthew P, Stilp Adrienne M, Rich Stephen S, Rotter Jerome I, Manichaikul Ani, Loos Ruth J F, Kenny Eimear E, Blackwell Thomas W, Smith Albert V, Jun Goo, Sedlazeck Fritz J, Metcalf Ginger, Boerwinkle Eric, Raffield Laura M, Reiner Alex P, Auer Paul L, Li Yun

Abstract excerpt

Current publicly available tools that allow rapid exploration of linkage disequilibrium (LD) between markers (e.g., HaploReg and LDlink) are based on whole-genome sequence (WGS) data from 2,504 individuals in the 1000 Genomes Project. Here, we present TOP-LD, an online tool to explore LD inferred with high-coverage (∼30×) WGS data from 15,578 individuals in the NHLBI Trans-Omics for Precision Medicine (TOPMed)...

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Identifiers

PMID: 35504290
DOI: 10.1016/j.ajhg.2022.04.006
PMCID: PMC9247832

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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