Identification of paternal germline mosaicism by MicroSeq and targeted next ‐generation sequencing

ConclusionMicroSeq is a valuable tool to identify the allele source of de novo mutations in a single patient. TNGS can be used to assess the mosaic ratios of known sites. We provided a systematic algorithm to detect germinal mosaicism in a single patient. This algorithm may have implications for genetic and reproductive counseling on germline mosaicism.

Source: Molecular Genetics & Genomic Medicine - July 8, 2020 Category: Genetics & Stem Cells Authors: Congling Dai, Dehua Cheng, Weina Li, Sicong Zeng, Guangxiu Lu, Qianjun Zhang Tags: ORIGINAL ARTICLE Source Type: research