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Article

Identification of Copy Number Variants from SNP Arrays Using PennCNV.

Methods in molecular biology (Clifton, N.J.) - 1 Jan 2018

Fang Li, Wang Kai

Abstract excerpt

High-resolution single-nucleotide polymorphism (SNP) genotyping arrays offer a sensitive and affordable method for genome-wide detection of copy number variants (CNVs). PennCNV is a hidden Markov model (HMM)-based CNV caller for SNP arrays, first released 10 years ago. A typical CNV calling procedure using PennCNV includes preparation of input files, CNV calling, filtering CNV calls, CNV annotation, and CNV...

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PMID: 30039360
DOI: 10.1007/978-1-4939-8666-8_1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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