Utility of droplet digital polymerase chain reaction for studying somatic mosaicism: brain malformations and beyond
Wei Shern Lee
Paul J.Lockhart
Bruce Lefroy Centre, Murdoch Children's Research Institute, Parkville, VIC, Australia;Department of Paediatrics, The University of Melbourne, Parkville, VIC, Australia
摘要：Somatic variants and how to find them: One major challenge in studying somatic mosaicism is the low abundance of potentially pathogenic somatic variant(s). Unlike inherited germline variants, which are essentially present in all cells, pathogenic somatic variants only exist in a subset of cells and may be present at very low (< 1％) variant allele frequency (VAF). Despite the low VAF, these somatic variants are disease-relevant and considered pathogenic.
机标关键词：polymerasesomaticreactionbeyonddigitalutilitybrainchain
论文发表日期：2023-11-28
在线出版日期：2025-08-15（本平台首次上网日期，不代表文献的发表时间）
页数：2( 2389-2390 )