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Article

Family-Based Benchmarking of Copy Number Variation Detection Software.

PloS one - 1 Jan 2015

Nutsua Marcel Elie, Fischer Annegret, Nebel Almut, Hofmann Sylvia, Schreiber Stefan, Krawczak Michael, Nothnagel Michael

Abstract excerpt

The analysis of structural variants, in particular of copy-number variations (CNVs), has proven valuable in unraveling the genetic basis of human diseases. Hence, a large number of algorithms have been developed for the detection of CNVs in SNP array signal intensity data. Using the European and African HapMap trio data, we undertook a comparative evaluation of six commonly used CNV detection software tools,...

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Identifiers

PMID: 26197066
DOI: 10.1371/journal.pone.0133465
PMCID: PMC4510559

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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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