المؤلفون: Jain, Shantanu, Bakolitsa, Constantina, Brenner, Steven E, Radivojac, Predrag, Moult, John, Repo, Susanna, Hoskins, Roger A, Andreoletti, Gaia, Barsky, Daniel, Chellapan, Ajithavalli, Chu, Hoyin, Dabbiru, Navya, Kollipara, Naveen K, Ly, Melissa, Neumann, Andrew J, Pal, Lipika R, Odell, Eric, Pandey, Gaurav, Peters-Petrulewicz, Robin C, Srinivasan, Rajgopal, Yee, Stephen F, Yeleswarapu, Sri Jyothsna, Zuhl, Maya, Adebali, Ogun, Patra, Ayoti, Beer, Michael A, Hosur, Raghavendra, Peng, Jian, Bernard, Brady M, Berry, Michael, Dong, Shengcheng, Boyle, Alan P, Adhikari, Aashish, Chen, Jingqi, Hu, Zhiqiang, Wang, Robert, Wang, Yaqiong, Miller, Maximilian, Wang, Yanran, Bromberg, Yana, Turina, Paola, Capriotti, Emidio, Han, James J, Ozturk, Kivilcim, Carter, Hannah, Babbi, Giulia, Bovo, Samuele, Di Lena, Pietro, Martelli, Pier Luigi, Savojardo, Castrense, Casadio, Rita, Cline, Melissa S, De Baets, Greet, Bonache, Sandra, Diez, Orland, Gutierrez-Enriquez, Sara, Fernandez, Alejandro, Montalban, Gemma, Ootes, Lars, Ozkan, Selen, Padilla, Natalia, Riera, Casandra, De la Cruz, Xavier, Diekhans, Mark, Huwe, Peter J, Wei, Qiong, Xu, Qifang, Dunbrack, Roland L, Gotea, Valer, Elnitski, Laura, Margolin, Gennady, Fariselli, Piero, Kulakovskiy, Ivan V, Makeev, Vsevolod J, Penzar, Dmitry D, Vorontsov, Ilya E, Favorov, Alexander V, Forman, Julia R, Hasenahuer, Marcia, Fornasari, Maria S, Parisi, Gustavo, Avsec, Ziga, Celik, Muhammed H, Thi, Yen Duong Nguyen, Gagneur, Julien, Shi, Fang-Yuan, Edwards, Matthew D, Guo, Yuchun, Tian, Kevin, Zeng, Haoyang, Gifford, David K, Goke, Jonathan, Zaucha, Jan, Gough, Julian, Ritchie, Graham RS, Frankish, Adam, Mudge, Jonathan M, Harrow, Jennifer, Young, Erin L, Yu, Yao

المصدر: Genome Biology. 25(1)

مصطلحات موضوعية: Biological Sciences, Genetics, Human Genome, Genetic Testing, 2.1 Biological and endogenous factors, Aetiology, Good Health and Well Being, Humans, Computational Biology, Mutation, Missense, Phenotype, Critical Assessment of Genome Interpretation Consortium, Environmental Sciences, Information and Computing Sciences, Bioinformatics

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/60j7f44b

المؤلفون: Daniele Raimondi, Antoine Passemiers, Nora Verplaetse, Massimiliano Corso, Ángel Ferrero-Serrano, Nelson Nazzicari, Filippo Biscarini, Piero Fariselli, Yves Moreau

المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-11 (2024)

مصطلحات موضوعية: Arabidopsis thaliana, Deep learning, Ionome prediction, Genomic prediction, Genome interpretation, Medicine, Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2045-2322

URL الوصول: https://doaj.org/article/fceee2ca0f36488ead2eb8dbdb0252f8

المؤلفون: Fowler, Douglas, Adams, David, Gloyn, Anna, Hahn, William, Marks, Debora, Muffley, Lara, Neal, James, Roth, Frederick, Rubin, Alan, Starita, Lea, Hurles, Matthew

المصدر: Genome Biology. 24(1)

مصطلحات موضوعية: Functional genomics, Genome interpretation, Global alliance, Multiplexed assay of variant effect, Saturation mutagenesis, Variant effect, Humans, Genetic Variation, Genomics, Genome, Human, High-Throughput Nucleotide Sequencing, Precision Medicine

وصف الملف: application/pdf

URL الوصول: https://escholarship.org/uc/item/2zn7v2wt

المؤلفون: Nunez-Martinez, Oscar Felipe^{Aff5, Aff6}, Jones, Laura M.^{Aff5, Aff6}, Bräutigam, Katharina^{Aff5, Aff6}

المساهمون: Kole, Chittaranjan, Series Editor^Aff1, Porth, Ilga, editor^Aff2, Klápště, Jaroslav, editor^Aff3, McKown, Athena, editor^Aff4

المصدر: The Poplar Genome. :43-56

المؤلفون: 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

المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-25 (2024)

مصطلحات موضوعية: Rare disease, Genome sequencing, Genome interpretation, Variant prioritization, Best practices, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/29fbe7d26d88463789f004c8908aa4a7

المؤلفون: Ho Heon Kim, Dong-Wook Kim, Junwoo Woo, Kyoungyeul Lee

المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-14 (2024)

مصطلحات موضوعية: Explainable AI, Clinical genome interpretation, Variant prioritization, Mendelian disorder, Medicine, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1479-7364

URL الوصول: https://doaj.org/article/bcefd9676d8d49719d8baea45c84db19

المؤلفون: Kavi Gupta, Chenxi Yang, Kayla McCue, Osbert Bastani, Phillip A. Sharp, Christopher B. Burge, Armando Solar-Lezama

المصدر: Genome Biology, Vol 25, Iss 1, Pp 1-23 (2024)

مصطلحات موضوعية: Alternative splicing, Genome interpretation, Machine learning, Neural network, RNA processing, RNA-binding protein, Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1474-760X

URL الوصول: https://doaj.org/article/b179444b841b409b98a2435b9e20ab80

المؤلفون: Verplaetse, Nora^{Aff1, IDs1305902303064y_cor1}, Passemiers, Antoine, Arany, Adam, Moreau, Yves, Raimondi, Daniele^{Aff1, IDs1305902303064y_cor5}

المصدر: Genome Biology. 24(1)

المؤلفون: Nora Verplaetse, Antoine Passemiers, Adam Arany, Yves Moreau, Daniele Raimondi

المصدر: Genome Biology, Vol 24, Iss 1, Pp 1-17 (2023)

مصطلحات موضوعية: Genome interpretation, Machine learning, Neural networks, Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1474-760X

URL الوصول: https://doaj.org/article/9f2abb0a643e418290fa07028058af11

المؤلفون: Douglas M. Fowler, David J. Adams, Anna L. Gloyn, William C. Hahn, Debora S. Marks, Lara A. Muffley, James T. Neal, Frederick P. Roth, Alan F. Rubin, Lea M. Starita, Matthew E. Hurles

المصدر: Genome Biology, Vol 24, Iss 1, Pp 1-12 (2023)

مصطلحات موضوعية: Multiplexed assay of variant effect, Genome interpretation, Variant effect, Saturation mutagenesis, Functional genomics, Global alliance, Biology (General), QH301-705.5, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1474-760X

URL الوصول: https://doaj.org/article/b9552b874a4a49a68deb254e2408b950