Parental mosaicism for apparent de novo genetic variants: Scope, detection, and counseling challenges
Author:
Affiliation:
1. Department of Molecular and Human Genetics Baylor College of Medicine Houston Texas USA
2. Department of Obstetrics and Gynecology Baylor College of Medicine Houston Texas USA
3. Texas Children’s Hospital Houston Texas USA
Funder
National Institute of General Medical Sciences
Eunice Kennedy Shriver National Institute of Child Health and Human Development
Publisher
Wiley
Subject
Genetics (clinical),Obstetrics and Gynecology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/pd.6144
Reference101 articles.
1. Somatic mosaicism: implications for disease and transmission genetics
2. Genetic mosaicism in haemophilia: A practical review to help evaluate the risk of transmitting the disease
3. Genome Mosaicism—One Human, Multiple Genomes
4. Somatic gene mutation and human disease other than cancer: An update
5. Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions
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