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Article

The Value of Parental Testing by Next-Generation Sequencing Includes the Detection of Germline Mosaicism.

The Journal of molecular diagnostics : JMD - 1 May 2020

Brewer Casey J, Gillespie Meghan, Fierro Joseph, Scaringe William A, Li Jie Mickey, Lee Che-Yu, Yen Hai-Yun, Gao Hanlin, Strom Samuel P

Abstract excerpt

When a potential disease-causing variant is detected in a proband, parental testing is used to determine the mode of inheritance. This study demonstrates that next-generation sequencing (NGS) is uniquely well suited for parental testing, in particular because of its ability to detect clinically relevant germline mosaicism. Parental variant testing by NGS was performed in a clinical laboratory for 1 year. The...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 32092540
DOI: 10.1016/j.jmoldx.2020.02.001

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