Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset

BACKGROUND: Due to the limitations of the current routine diagnostic methods, low-level somatic mosaicism with variant allele fraction (VAF) < 10% is often undetected in clinical settings. To date, only a few studies have attempted to analyze tissue distribution of low-level parental mosaicism in...

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Detalles Bibliográficos
Autores principales: Domogala, Daniel D., Gambin, Tomasz, Zemet, Roni, Wu, Chung Wah, Schulze, Katharina V., Yang, Yaping, Wilson, Theresa A., Machol, Ido, Liu, Pengfei, Stankiewicz, Paweł
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Primary Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8686574/
https://www.ncbi.nlm.nih.gov/pubmed/34930489
http://dx.doi.org/10.1186/s40246-021-00369-6

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