作者
Shantanu Jain, Constantina Bakolitsa, E Brenner Steven, Predrag Radivojac, John Moult, Susanna Repo, A Hoskins Roger, Gaia Andreoletti, Daniel Barsky, Ajithavalli Chellapan, Hoyin Chu, Navya Dabbiru, K Kollipara Naveen, Ly Melissa, J Neumann Andrew, R Pal Lipika, Eric Odell, Gaurav Pandey, C Robin, Rajgopal Srinivasan, F Yee Stephen, Sri Jyothsna Yeleswarapu, Maya Zuhl, Ogun Adebali, Ayoti Patra, A Beer Michael, Raghavendra Hosur, Jian Peng, M Bernard Brady, Michael Berry, Shengcheng Dong, P Boyle Alan, Aashish Adhikari, Jingqi Chen, Hu Zhiqiang, Robert Wang, Yaqiong Wang, Maximilian Miller, Yanran Wang, Yana Bromberg, Paola Turina, Emidio Capriotti, J Han James, Kivilcim Ozturk, Hannah Carter, Giulia Babbi, Samuele Bovo, Pietro Di Lena, Pier Luigi Martelli, Castrense Savojardo, Rita Casadio, S Cline Melissa, Greet De Baets, Sandra Bonache, Orland Díez, Sara Gutiérrez-Enríquez, Alejandro Fernández, Gemma Montalban, Lars Ootes, Selen Özkan, Natàlia Padilla, Casandra Riera, Xavier De la Cruz, Mark Diekhans, J Huwe Peter, Qiong Wei, Xu Qifang, L Dunbrack Roland, Valer Gotea, Laura Elnitski, Gennady Margolin, Piero Fariselli, V Kulakovskiy Ivan, J Makeev Vsevolod, D Penzar Dmitry, E Vorontsov Ilya, V Favorov Alexander, R Forman Julia, Marcia Hasenahuer, S Fornasari Maria, Gustavo Parisi, Ziga Avsec, H Çelik Muhammed, Thi Yen Duong Nguyen, Julien Gagneur, Fang-Yuan Shi, D Edwards Matthew, Yuchun Guo, Kevin Tian, Haoyang Zeng, K Gifford David, Jonathan Göke, Jan Zaucha, Julian Gough, S Ritchie Graham R, Adam Frankish, M Mudge Jonathan, Jennifer Harrow, L Young Erin, Yu Yao, D Huff Chad, Katsuhiko Murakami, Yoko Nagai, Tadashi Imanishi, J Mungall Christopher, B Jacobsen Julius O, Dongsup Kim, Chan-Seok Jeong, T Jones David, Mulin Jun Li, Violeta Beleva Guthrie, Rohit Bhattacharya, Yun-Ching Chen, Christopher Douville, Jean Fan, Dewey Kim, David Masica, Noushin Niknafs, Sohini Sengupta, Collin Tokheim, N Turner Tychele, Hui Ting Grace Yeo, Rachel Karchin, Sunyoung Shin, Rene Welch, Sunduz Keles, Li Yue, Manolis Kellis, Carles Corbi-Verge, V Strokach Alexey, M Kim Philip, E Klein Teri, Rahul Mohan, A Nicholas, Michael Wainberg, Anshul Kundaje, Nina Gonzaludo, Y Mak Angel C, Aparna Chhibber, K Lam Hugo Y, Dvir Dahary, Simon Fishilevich, Doron Lancet, Insuk Lee, Benjamin Bachman, Panagiotis Katsonis, C Lua Rhonald, J Wilson Stephen, Olivier Lichtarge, R Bhat Rajendra
发表日期
2024
来源
Genome Biology
卷号
22
期号
22; 25 (1): 53.
页码范围
1-46
出版商
Springer Nature
简介
Background: The Critical Assessment of Genome Interpretation (CAGI) aims to advance the state-of-the-art for computational prediction of genetic variant impact, particularly where relevant to disease. The five complete editions of the CAGI community experiment comprised 50 challenges, in which participants made blind predictions of phenotypes from genetic data, and these were evaluated by independent assessors. Results: Performance was particularly strong for clinical pathogenic variants, including some difficult-to-diagnose cases, and extends to interpretation of cancer-related variants. Missense variant interpretation methods were able to estimate biochemical effects with increasing accuracy. Assessment of methods for regulatory variants and complex trait disease risk was less definitive and indicates performance potentially suitable for auxiliary use in the clinic. Conclusions: Results show that while current methods are imperfect, they have major utility for research and clinical applications. Emerging methods and increasingly large, robust datasets for training and assessment promise further progress ahead.
Critical assessment of genome interpretation consortium. CAGI, the critical assessment of genome interpretation, establishes progress and pprospects for computational genetic variant interpretation methods/Jain, Shantanu; Bakolitsa, Constantina; E Brenner, Steven; Radivojac, Predrag; Moult, John; Repo, Susanna; A Hoskins, Roger; Andreoletti, Gaia; Barsky, Daniel; Chellapan, Ajithavalli; Chu, Hoyin; Dabbiru, Navya; K Kollipara, Naveen; Ly, Melissa; J Neumann, Andrew; R Pal, Lipika; Odell, Eric; Pandey, Gaurav; C Peters …
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S Jain, C Bakolitsa, EB Steven, P Radivojac, J Moult… - Genome Biology, 2024