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Article

Alternate-locus aware variant calling in whole genome sequencing.

Genome medicine - 13 Dec 2016

Jäger Marten, Schubach Max, Zemojtel Tomasz, Reinert Knut, Church Deanna M, Robinson Peter N

Abstract excerpt

BACKGROUND: The last two human genome assemblies have extended the previous linear golden-path paradigm of the human genome to a graph-like model to better represent regions with a high degree of structural variability. The new model offers opportunities to improve the technical validity of variant calling in whole-genome sequencing (WGS). METHODS: We developed an algorithm that analyzes the patterns of variant...

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Identifiers

PMID: 27964746
DOI: 10.1186/s13073-016-0383-z
PMCID: PMC5155401

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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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