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Article

Improved genome inference in the MHC using a population reference graph.

Nature genetics - 1 Jun 2015

Dilthey Alexander, Cox Charles, Iqbal Zamin, Nelson Matthew R, McVean Gil

Abstract excerpt

Although much is known about human genetic variation, such information is typically ignored in assembling new genomes. Instead, reads are mapped to a single reference, which can lead to poor characterization of regions of high sequence or structural diversity. We introduce a population reference graph, which combines multiple reference sequences and catalogs of variation. The genomes of new samples are...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25915597
DOI: 10.1038/ng.3257
PMCID: PMC4449272

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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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