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

Sarah L. Stenton,Melanie C. O’Leary,Gabrielle Lemire,Grace E. VanNoy,Stephanie DiTroia,Vijay S. Ganesh,Emily Groopman,Emily O’Heir,Brian Mangilog,Ikeoluwa Osei-Owusu,Lynn S. Pais,Jillian Serrano,Moriel Singer-Berk,Ben Weisburd, Michael W. Wilson,Christina Austin-Tse,Marwa Abdelhakim,Azza Althagafi,Giulia Babbi,Riccardo Bellazzi,Samuele Bovo, Maria Giulia Carta,Rita Casadio,Pieter-Jan Coenen,Federica De Paoli,Matteo Floris,Manavalan Gajapathy,Robert Hoehndorf,Julius O. B. Jacobsen,Thomas Joseph,Akash Kamandula,Panagiotis Katsonis,Cyrielle Kint,Olivier Lichtarge,Ivan Limongelli,Yulan Lu, Paolo Magni,Tarun Karthik Kumar Mamidi,Pier Luigi Martelli,Marta Mulargia,Giovanna Nicora,Keith Nykamp,Vikas Pejaver,Yisu Peng, Thi Hong Cam Pham,Maurizio S. Podda,Aditya Rao,Ettore Rizzo,Vangala G. Saipradeep,Castrense Savojardo,Peter Schols,Yang Shen,Naveen Sivadasan,Damian Smedley,Dorian Soru,Rajgopal Srinivasan,Yuanfei Sun,Uma Sunderam,Wuwei Tan,Naina Tiwari,Xiao Wang,Yaqiong Wang,Amanda Williams,Elizabeth A. Worthey,Rujie Yin,Yuning You,Daniel Zeiberg,Susanna Zucca,Constantina Bakolitsa,Steven E. Brenner,Stephanie M. Fullerton,Predrag Radivojac,Heidi L. Rehm,Anne O’Donnell-Luria

Human Genomics（2024）

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摘要

A major obstacle faced by families with rare diseases is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five years and causal variants are identified in under 50

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关键词

Rare disease,Genome sequencing,Genome interpretation,Variant prioritization,Best practices

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