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Article

Accurate and Effective Detection of Recurrent Copy Number Variants in Large SNP Genotype Datasets.

Current protocols - 1 Dec 2022

Montalbano Simone, Sánchez Xabier Calle, Vaez Morteza, Helenius Dorte, Werge Thomas, Ingason Andrés

Abstract excerpt

Structural variations, including recurrent Copy Number Variants (CNVs) at specific genomic loci, have been found to be associated with increased risk of several diseases and syndromes. CNV carrier status can be determined in large collections of samples using SNP arrays and, more recently, sequencing data. Although there is some consensus among researchers about the essential steps required in such analysis...

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PMID: 36469582
DOI: 10.1002/cpz1.621
PMCID: PMC9729012

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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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