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Methods to detect and analyze copy number variations at the genome-wide and locus-specific levels.

Cytogenetic and genome research - 1 Jan 2008

Lee J H, Jeon J T

Abstract excerpt

Copy number variations (CNVs) have effects on phenotypes by altering transcription levels of genes and may have major impacts on protein sequence, structure and function. Therefore, CNV screening and analysis focused on the identification of CNV-genetic disease relations are actively progressing. CNVs can be detected and analyzed by various methodologies at the genome-wide and locus-specific levels. The...

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PMID: 19287172
DOI: 10.1159/000184725

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

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