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Article

An analytical workflow for accurate variant discovery in highly divergent regions.

BMC genomics - 2 Sept 2016

Tian Shulan, Yan Huihuang, Neuhauser Claudia, Slager Susan L

Abstract excerpt

BACKGROUND: Current variant discovery methods often start with the mapping of short reads to a reference genome; yet, their performance deteriorates in genomic regions where the reads are highly divergent from the reference sequence. This is particularly problematic for the human leukocyte antigen (HLA) region on chromosome 6p21.3. This region is associated with over 100 diseases, but variant calling is hindered...

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Identifiers

PMID: 27590916
DOI: 10.1186/s12864-016-3045-z
PMCID: PMC5010666

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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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