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Article

Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions.

Current protocols in human genetics - 1 Jun 2020

Liu Qian, Grochowski Christopher M, Bi Weimin, Lupski James R, Stankiewicz Paweł

Abstract excerpt

As genome sequencing methodologies have become more sensitive in detecting low-frequency rare-variant events, the link between post-zygotic mutagenesis and somatic mosaicism in the etiology of several human genetic conditions other than cancers has become more clear. Given that current clinical-genomics diagnostic methods have limited detection sensitivity for mosaic events, a copy-number variant (CNV) deletion...

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Share to DNA Copy Number Variations
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Nucleotide Sequencing

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PMID: 32176465
DOI: 10.1002/cphg.99
PMCID: PMC7138410

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