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Article

Comparative analysis of de novo assemblers for variation discovery in personal genomes.

Briefings in bioinformatics - 28 Sept 2018

Tian Shulan, Yan Huihuang, Klee Eric W, Kalmbach Michael, Slager Susan L

Abstract excerpt

Current variant discovery approaches often rely on an initial read mapping to the reference sequence. Their effectiveness is limited by the presence of gaps, potential misassemblies, regions of duplicates with a high-sequence similarity and regions of high-sequence divergence in the reference. Also, mapping-based approaches are less sensitive to large INDELs and complex variations and provide little phase...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28407084
DOI: 10.1093/bib/bbx037
PMCID: PMC6169673

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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