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Article

Systematic prediction and validation of breakpoints associated with copy-number variants in the human genome.

Proceedings of the National Academy of Sciences of the United States of America - 12 Jun 2007

Korbel Jan O, Urban Alexander Eckehart, Grubert Fabian, Du Jiang, Royce Thomas E, Starr Peter, Zhong Guoneng, Emanuel Beverly S, Weissman Sherman M, Snyder Michael, Gerstein Mark B

Abstract excerpt

Copy-number variants (CNVs) are an abundant form of genetic variation in humans. However, approaches for determining exact CNV breakpoint sequences (physical deletion or duplication boundaries) across individuals, crucial for associating genotype to phenotype, have been lacking so far, and the vast majority of CNVs have been reported with approximate genomic coordinates only. Here, we report an approach, called...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 17551006
DOI: 10.1073/pnas.0703834104
PMCID: PMC1891248

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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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