REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.
Scientific Reports
Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D
Targeted resequencing of 358 candidate genes for autism spectrum disorder in a Chinese cohort reveals diagnostic potential and genotype-phenotype correlations.
Human Mutation
Zhou, Wei-Zhen WZ; Zhang, Jie J; Li, Ziyi Z; Lin, Xiaojing X; Li, Jiarui J; Wang, Sheng S; Yang, Changhong C; Wu, Qixi Q; Ye, Adam Yongxin AY; Wang, Meng M; Wang, Dandan D; Pu, Tad Zhengzhang TZ; Wu, Yu-Yu YY; Wei, Liping L
Publication Date: 2019-06
Variant appearance in text: TSC2: 1081C>G; Leu361Val