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

TitleQuantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions.
Publication TypeJournal Article
Year of Publication2020
AuthorsLiu, Q, Grochowski, CM, Bi, W, Lupski, JR, Stankiewicz, P
JournalCurr Protoc Hum Genet
Volume106
Issue1
Paginatione99
Date Published2020 06
ISSN1934-8258
KeywordsDNA Copy Number Variations, Genetic Diseases, Inborn, High-Throughput Nucleotide Sequencing, Humans, Mosaicism, Parents, Polymorphism, Single Nucleotide, Real-Time Polymerase Chain Reaction
Abstract

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 inherited from a parent with low-level (

DOI10.1002/cphg.99
Alternate JournalCurr Protoc Hum Genet
PubMed ID32176465
PubMed Central IDPMC7138410
Grant ListUM1 HG006542 / HG / NHGRI NIH HHS / United States
R35 NS105078 / NS / NINDS NIH HHS / United States
R01 HD087292 / HD / NICHD NIH HHS / United States
R01 GM106373 / GM / NIGMS NIH HHS / United States