Additional file 1 of Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project
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
Description
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).
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Metrics Over Time
Publication Details
DOI
Publisher
figshare
Subfield
Genetics
Field
Biochemistry, Genetics and Molecular Biology
Domain
Life Sciences
Confidence Score
44%
Source
Scholar Data Model
Keywords
GeneticsFOS: Biological sciences