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Article

Assessing the reproducibility of exome copy number variations predictions.

Genome medicine - 8 Aug 2016

Hong Celine S, Singh Larry N, Mullikin James C, Biesecker Leslie G

Abstract excerpt

BACKGROUND: Reproducibility is receiving increased attention across many domains of science and genomics is no exception. Efforts to identify copy number variations (CNVs) from exome sequence (ES) data have been increasing. Many algorithms have been published to discover CNVs from exomes and a major challenge is the reproducibility in other datasets. Here we test exome CNV calling reproducibility under three...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27503473
DOI: 10.1186/s13073-016-0336-6
PMCID: PMC4976506

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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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