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Article

Copy Number Variation Analysis.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2026

Artaza Haydee

Abstract excerpt

Copy number variants (CNVs) considerably influence the human genome and may play a role in disease development. Data produced by high-throughput SNP genotyping platforms can be used for CNV detection. Here, we present a study case, including code, for the detection of CNVs, quality assessment, and identification of rare CNVs.

Read the complete abstract on PubMed

Topics

Humans
DNA Copy Number Variations
Polymorphism, Single Nucleotide
Genome, Human
Software

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 42681537
DOI: 10.1007/978-1-0716-5284-8_13

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