PSAP-Genomic-Regions: A Method Leveraging Population Data to Prioritize Coding and Non-Coding Variants in Whole Genome Sequencing for Rare Disease Diagnosis
PSAP-基因组区域:一种利用群体数据对全基因组测序中的编码和非编码变异进行优先级排序以用于罕见病诊断的方法
期刊:Genetic Epidemiology
影响因子:3.8
doi:10.1002/gepi.22593
Ogloblinsky, Marie-Sophie C; Bocher, Ozvan; Aloui, Chaker; Leutenegger, Anne-Louise; Ozisik, Ozan; Baudot, Anaïs; Tournier-Lasserve, Elisabeth; Castillo-Madeen, Helen; Lewinsohn, Daniel; Conrad, Donald F; Génin, Emmanuelle; Marenne, Gaëlle