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Copy Number Variation.

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

Macé Aurélien, Kutalik Zoltán, Valsesia Armand

Abstract excerpt

Differences between genomes can be due to single nucleotide variants (SNPs), translocations, inversions and copy number variants (CNVs, gain or loss of DNA). The latter can range from sub-microscopic events to complete chromosomal aneuploidies. Small CNVs are often benign but those larger than 250 kb are strongly associated with morbid consequences such as developmental disorders and cancer. Detecting CNVs within...

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PMID: 29876900
DOI: 10.1007/978-1-4939-7868-7_14

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