Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study
Generation 研究中基因组新生儿筛查变异优先排序策略的评估
期刊:Genetics in Medicine
影响因子:6.2
doi:10.1016/j.gim.2025.101532
Kaplanis, Joanna; Deen, Dasha; Sivakumar, Prasanth; de Almeida Gomes, Mafalda; Puzriakova, Arina; Leong, Ivone; Savage, Kevin; Aldam, Gabriel; Skelton, James; Quinn, Paul; Parrish, Andrew; Baple, Emma; To, Meekai; Stone, Katrina; Bick, David; Pichini, Amanda; Tuff-Lacey, Alice; Scott, Richard; Thomas, Ellen; Kasperaviciute, Dalia