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

Autor:	Daniel D. Domogala, Tomasz Gambin, Roni Zemet, Chung Wah Wu, Katharina V. Schulze, Yaping Yang, Theresa A. Wilson, Ido Machol, Pengfei Liu, Paweł Stankiewicz
Jazyk:	angličtina
Rok vydání:	2021
Předmět:	Clinical diagnostic testing Mosaicism carrier Recurrence risk Rare variants Mendelian genomics Medicine Genetics QH426-470
Zdroj:	Human Genomics, Vol 15, Iss 1, Pp 1-11 (2021)
Druh dokumentu:	article
ISSN:	1479-7364
DOI:	10.1186/s40246-021-00369-6
Popis:	Abstract Background Due to the limitations of the current routine diagnostic methods, low-level somatic mosaicism with variant allele fraction (VAF)
Databáze:	Directory of Open Access Journals
Externí odkaz:	https://doaj.org/article/a079991ce3584d29b2db22f250c93147 Zobrazit plný text záznamu Full text from SpringerLink View record in DOAJ