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Article

Towards pan-genome read alignment to improve variation calling.

BMC genomics - 9 May 2018

Valenzuela Daniel, Norri Tuukka, Välimäki Niko, Pitkänen Esa, Mäkinen Veli

Abstract excerpt

BACKGROUND: Typical human genome differs from the reference genome at 4-5 million sites. This diversity is increasingly catalogued in repositories such as ExAC/gnomAD, consisting of >15,000 whole-genomes and >126,000 exome sequences from different individuals. Despite this enormous diversity, resequencing data workflows are still based on a single human reference genome. Identification and genotyping of genetic...

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Identifiers

PMID: 29764365
DOI: 10.1186/s12864-018-4465-8
PMCID: PMC5954285

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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