Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
对罕见基因组计划中用于罕见病诊断的变异优先排序方法进行批判性评估
期刊:Human Genomics
影响因子:4.3
doi:10.1186/s40246-024-00604-w
Stenton, Sarah L; O'Leary, Melanie C; Lemire, Gabrielle; VanNoy, Grace E; DiTroia, Stephanie; Ganesh, Vijay S; Groopman, Emily; O'Heir, Emily; Mangilog, Brian; Osei-Owusu, Ikeoluwa; Pais, Lynn S; Serrano, Jillian; Singer-Berk, Moriel; Weisburd, Ben; Wilson, Michael W; Austin-Tse, Christina; Abdelhakim, Marwa; Althagafi, Azza; Babbi, Giulia; Bellazzi, Riccardo; Bovo, Samuele; Carta, Maria Giulia; Casadio, Rita; Coenen, Pieter-Jan; De Paoli, Federica; Floris, Matteo; Gajapathy, Manavalan; Hoehndorf, Robert; Jacobsen, Julius O B; Joseph, Thomas; Kamandula, Akash; Katsonis, Panagiotis; Kint, Cyrielle; Lichtarge, Olivier; Limongelli, Ivan; Lu, Yulan; Magni, Paolo; Mamidi, Tarun Karthik Kumar; Martelli, Pier Luigi; Mulargia, Marta; Nicora, Giovanna; Nykamp, Keith; Pejaver, Vikas; Peng, Yisu; Pham, Thi Hong Cam; Podda, Maurizio S; Rao, Aditya; Rizzo, Ettore; Saipradeep, Vangala G; Savojardo, Castrense; Schols, Peter; Shen, Yang; Sivadasan, Naveen; Smedley, Damian; Soru, Dorian; Srinivasan, Rajgopal; Sun, Yuanfei; Sunderam, Uma; Tan, Wuwei; Tiwari, Naina; Wang, Xiao; Wang, Yaqiong; Williams, Amanda; Worthey, Elizabeth A; Yin, Rujie; You, Yuning; Zeiberg, Daniel; Zucca, Susanna; Bakolitsa, Constantina; Brenner, Steven E; Fullerton, Stephanie M; Radivojac, Predrag; Rehm, Heidi L; O'Donnell-Luria, Anne