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Article

Detecting differential copy number variation between groups of samples.

Genome research - 1 Feb 2018

Lowe Craig B, Sanchez-Luege Nicelio, Howes Timothy R, Brady Shannon D, Daugherty Rhea R, Jones Felicity C, Bell Michael A, Kingsley David M

Abstract excerpt

We present a method to detect copy number variants (CNVs) that are differentially present between two groups of sequenced samples. We use a finite-state transducer where the emitted read depth is conditioned on the mappability and GC-content of all reads that occur at a given base position. In this model, the read depth within a region is a mixture of binomials, which in simulations matches the read depth more...

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Source

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Identifiers

PMID: 29229672
DOI: 10.1101/gr.206938.116
PMCID: PMC5793789

Genes

DCHS1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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