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Article

Copy number variation sequencing for comprehensive diagnosis of chromosome disease syndromes.

The Journal of molecular diagnostics : JMD - 1 Sept 2014

Liang Desheng, Peng Ying, Lv Weigang, Deng Linbei, Zhang Yanghui, Li Haoxian, Yang Pu, Zhang Jianguang, Song Zhuo, Xu Genming, Cram David S, Wu Lingqian

Abstract excerpt

Detection of chromosome copy number variation (CNV) plays an important role in the diagnosis of patients with unexplained clinical symptoms and for the identification of chromosome disease syndromes in the established fetus. In current clinical practice, karyotyping, in conjunction with array-based methods, is the gold standard for detection of CNV. To increase accessibility and reduce patient costs for...

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Share to Chromosome Disorders
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24998187
DOI: 10.1016/j.jmoldx.2014.05.002

Provenance

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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