LDlink: A web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants

Mitchell J. Machiela, Stephen J. Chanock

Research output: Contribution to journalArticle

Abstract

Summary: Assessing linkage disequilibrium (LD) across ancestral populations is a powerful approach for investigating population-specific genetic structure as well as functionally mapping regions of disease susceptibility. Here, we present LDlink, a web-based collection of bioinformatic modules that query single nucleotide polymorphisms (SNPs) in population groups of interest to generate haplotype tables and interactive plots. Modules are designed with an emphasis on ease of use, query flexibility, and interactive visualization of results. Phase 3 haplotype data from the 1000 Genomes Project are referenced for calculating pairwise metrics of LD, searching for proxies in high LD, and enumerating all observed haplotypes. LDlink is tailored for investigators interested in mapping common and uncommon disease susceptibility loci by focusing on output linking correlated alleles and highlighting putative functional variants. Availability and implementation: LDlink is a free and publically available web tool which can be accessed at http://analysistools.nci.nih.gov/LDlink/.

Original languageEnglish (US)
Pages (from-to)3555-3557
Number of pages3
JournalBioinformatics
Volume31
Issue number21
DOIs
StatePublished - Dec 18 2015

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ASJC Scopus subject areas

  • Statistics and Probability
  • Biochemistry
  • Molecular Biology
  • Computer Science Applications
  • Computational Theory and Mathematics
  • Computational Mathematics

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