Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected...
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions
About this item
Full title
Author / Creator
Gambin, Tomasz , Liu, Qian , Karolak, Justyna A. , Grochowski, Christopher M. , Xie, Nina G. , Wu, Lucia R. , Yan, Yan Helen , Cao, Ye , Coban Akdemir, Zeynep H. , Wilson, Theresa A. , Jhangiani, Shalini N. , Chen, Ed , Eng, Christine M. , Muzny, Donna , Posey, Jennifer E. , Yang, Yaping , Zhang, David Y. , Shaw, Chad , Liu, Pengfei , Lupski, James R. and Stankiewicz, Paweł
Publisher
New York: Nature Publishing Group US
Journal title
Language
English
Formats
Publication information
Publisher
New York: Nature Publishing Group US
Subjects
More information
Scope and Contents
Contents
Purpose
The goal of this study was to assess the scale of low-level parental mosaicism in exome sequencing (ES) databases.
Methods
We analyzed approximately 2000 family trio ES data sets from the Baylor-Hopkins Center for Mendelian Genomics (BHCMG) and Baylor Genetics (BG). Among apparent de novo single-nucleotide variants identified in th...
Alternative Titles
Full title
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions
Authors, Artists and Contributors
Author / Creator
Liu, Qian
Karolak, Justyna A.
Grochowski, Christopher M.
Xie, Nina G.
Wu, Lucia R.
Yan, Yan Helen
Cao, Ye
Coban Akdemir, Zeynep H.
Wilson, Theresa A.
Jhangiani, Shalini N.
Chen, Ed
Eng, Christine M.
Muzny, Donna
Posey, Jennifer E.
Yang, Yaping
Zhang, David Y.
Shaw, Chad
Liu, Pengfei
Lupski, James R.
Stankiewicz, Paweł
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7606563
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7606563
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-020-0897-z
