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Article

Repeat- and error-aware comparison of deletions.

Bioinformatics (Oxford, England) - 15 Sept 2015

Wittler Roland, Marschall Tobias, Schönhuth Alexander, Mäkinen Veli

Abstract excerpt

MOTIVATION: The number of reported genetic variants is rapidly growing, empowered by ever faster accumulation of next-generation sequencing data. A major issue is comparability. Standards that address the combined problem of inaccurately predicted breakpoints and repeat-induced ambiguities are missing. This decisively lowers the quality of 'consensus' callsets and hampers the removal of duplicate entries in...

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Identifiers

PMID: 25979471
DOI: 10.1093/bioinformatics/btv304

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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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