Additional file 1 of Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
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https://springernature.figshare.com/articles/dataset/Additional_file_1_of_Critical_assessment_of_variant_prioritization_methods_for_rare_disease_diagnosis_within_the_rare_genomes_project/26713900/1
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资源简介：
Additional file 1. Supplementary Information (Methodology of participating teams, Reanalysis of highly ranked variants by top performing teams in solved families, Supplemental Figures 1–2, and Supplemental References).
提供机构：
Mangilog, Brian; Kamandula, Akash; Martelli, Pier Luigi; Rao, Aditya; Srinivasan, Rajgopal; Worthey, Elizabeth A.; Austin-Tse, Christina; Jacobsen, Julius O. B.; Wang, Xiao; Mulargia, Marta; O’Leary, Melanie C.; Wang, Yaqiong; Tan, Wuwei; Kint, Cyrielle; Coenen, Pieter-Jan; Gajapathy, Manavalan; Sunderam, Uma; Brenner, Steven E.; Lu, Yulan; Limongelli, Ivan; Osei-Owusu, Ikeoluwa; Bellazzi, Riccardo; Soru, Dorian; Nykamp, Keith; Radivojac, Predrag; Katsonis, Panagiotis; Schols, Peter; Tiwari, Naina; Rehm, Heidi L.; Singer-Berk, Moriel; Rizzo, Ettore; Ganesh, Vijay S.; Joseph, Thomas; Yin, Rujie; Podda, Maurizio S.; Hoehndorf, Robert; Savojardo, Castrense; Bakolitsa, Constantina; Abdelhakim, Marwa; Peng, Yisu; Williams, Amanda; You, Yuning; Mamidi, Tarun Karthik Kumar; O’Heir, Emily; Babbi, Giulia; Casadio, Rita; Pham, Thi Hong Cam; Nicora, Giovanna; Stenton, Sarah L.; De Paoli, Federica; Sun, Yuanfei; O’Donnell-Luria, Anne; DiTroia, Stephanie; Fullerton, Stephanie M.; Serrano, Jil
创建时间：
2024-08-15
