Article

Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.

Human genomics - 29 Apr 2024

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