Article
Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins.
The Journal of molecular diagnostics : JMD - 1 Apr 2020
Karolak Justyna A, Liu Qian, Xie Nina G, Wu Lucia R, Rocha Gustavo, Fernandes Susana, Ho-Ming Luk, Lo Ivan F, Mowat David, Fiorino Elizabeth K, Edelman Morris, Fox Joyce, Hayes Denise A, Witte David, Parrott Ashley, Popek Edwina, Szafranski Przemyslaw, Zhang David Y, Stankiewicz Pawel
Abstract excerpt
Detection of low-level somatic mosaicism [alternate allele fraction (AAF) ≤ 10%] in parents of affected individuals with the apparent de novo pathogenic variants enables more accurate estimate of recurrence risk. To date, only a few systematic analyses of low-level parental somatic mosaicism have been performed. Herein, highly sensitive blocker displacement amplification, droplet digital PCR, quantitative PCR,...
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