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Article

Detection of structural variants involving repetitive regions in the reference genome.

Journal of computational biology : a journal of computational molecular cell biology - 1 Mar 2014

Lee Heewook, Popodi Ellen, Foster Patricia L, Tang Haixu

Abstract excerpt

Next-generation sequencing techniques are now commonly used to characterize structural variations (SVs) in population genomics and elucidate their associations with phenotypes. Many of the computational tools developed for detecting structural variations work by mapping paired-end reads to a reference genome and identifying the discordant read-pairs whose mapped loci in the reference genome deviate from the...

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Identifiers

PMID: 24552580
DOI: 10.1089/cmb.2013.0129

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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