Easy-PSAP: An Integrated Workflow to Prioritize Pathogenic Variants in Sequence Data from a Single Individual
Easy-PSAP:一种用于对单个个体序列数据中的致病变异进行优先级排序的集成工作流程
期刊:Human Heredity
影响因子:1.5
doi:10.1159/000543671
Ogloblinsky, Marie-Sophie C; Gros-La-Faige, Marc B; Lewinsohn, Daniel P; Nguyen, Mathilde; Velo-Suarez, Lourdes; Herzig, Anthony; Ludwig, Thomas E; Castillo-Madeen, Helen; Conrad, Donald F; Génin, Emmanuelle; Marenne, Gaëlle