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Article

Clinical significance of germline copy number variation in susceptibility of human diseases.

Journal of genetics and genomics = Yi chuan xue bao - 20 Jan 2018

Hu Liwen, Yao Xinyue, Huang Hairong, Guo Zhong, Cheng Xi, Xu Yang, Shen Yi, Xu Biao, Li Demin

Abstract excerpt

Germline copy number variation (CNV) is considered to be an important form of human genetic polymorphisms. Previous studies have identified amounts of CNVs in human genome by advanced technologies, such as comparative genomic hybridization, single nucleotide genotyping, and high-throughput sequencing. CNV is speculated to be derived from multiple mechanisms, such as nonallelic homologous recombination (NAHR) and...

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Identifiers

PMID: 29396143
DOI: 10.1016/j.jgg.2018.01.001

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