Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project

BACKGROUND: A major obstacle faced by rare disease families is obtaining a genetic diagnosis. The average “diagnostic odyssey” lasts over five years, and causal variants are identified in under 50%. The Rare Genomes Project (RGP) is a direct-to-participant research study on the utility of genome seq...

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Detalles Bibliográficos
Autores principales: Stenton, Sarah L., O’Leary, Melanie, 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, 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10418577/
https://www.ncbi.nlm.nih.gov/pubmed/37577678
http://dx.doi.org/10.1101/2023.08.02.23293212

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