Comprehensive application of multiple molecular diagnostic techniques in pre ‐implantation genetic testing for monogenic

ConclusionIn conclusion, this study found that SNP analysis is advantageous for identifying polygenic and deletional mutations, whereas NGS is more cost-efficient for detecting common monogenic diseases. Additionally, SNP-based haplotyping and PCR-based direct detection of mutations can be used together to enhance the accuracy and success rates of PGT-M. Our findings offer valuable insights for PGT technicians in choosing suitable detection methods for patients.

Source: Molecular Genetics & Genomic Medicine - October 13, 2023 Category: Genetics & Stem Cells Authors: Peng Huang, Yueyun Lan, Hong Zhou, Luye Lin, Jinhui Shu, Caizhu Wang, Xin Zhao, Lifang Liang, Sheng He, Jingfei Mou, Xiaofei Zhang, Qingming Qiu, Hongwei Wei Tags: ORIGINAL ARTICLE Source Type: research