A gene pathogenicity tool "GenePy" identifies missed biallelic diagnoses in the 100,000 Genomes Project
基因致病性分析工具“GenePy”能够识别“十万基因组计划”中遗漏的双等位基因诊断。
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2024.101073
Seaby, Eleanor G; Leggatt, Gary; Cheng, Guo; Thomas, N Simon; Ashton, James J; Stafford, Imogen; Baralle, Diana; Rehm, Heidi L; O'Donnell-Luria, Anne; Ennis, Sarah