Genetic & Genomic MedicinemedRxivPreprint
A Novel Methodology to Recalibrate Pathogenic Range of SCA36 Repeat Expansions for PGT-M
Fulin Liu, Wen Huang, Ling Liao, Jiyun Yang
This paper recalibrates the pathogenic range of SCA36 repeat expansions using Bayesian methods and long-read sequencing to improve clinical applicability for preimplantation genetic testing.
DOI 10.1101/2024.08.11.24311662