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Article

Prevalence and properties of intragenic copy-number variation in Mendelian disease genes.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2019

Truty Rebecca, Paul Joshua, Kennemer Michael, Lincoln Stephen E, Olivares Eric, Nussbaum Robert L, Aradhya Swaroop

Abstract excerpt

PURPOSE: We investigated the frequencies and characteristics of intragenic copy-number variants (CNVs) in a deep sampling of disease genes associated with monogenic disorders. METHODS: Subsets of 1507 genes were tested using next-generation sequencing to simultaneously detect sequence variants and CNVs in >143,000 individuals referred for genetic testing. We analyzed CNVs in gene panels for hereditary cancer...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29895855
DOI: 10.1038/s41436-018-0033-5
PMCID: PMC6752305

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