Search Results - "Variant prioritization"

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  1. 1

    QueryOR: a comprehensive web platform for genetic variant analysis and prioritization by Loris Bertoldi, Claudio Forcato, Nicola Vitulo, Giovanni Birolo, Fabio De Pascale, Erika Feltrin, Riccardo Schiavon, Franca Anglani, Susanna Negrisolo, Alessandra Zanetti, Francesca D’Avanzo, Rosella Tomanin, Georgine Faulkner, Alessandro Vezzi, Giorgio Valle

    Published in BMC Bioinformatics (2017-04-01)
    Subjects: “…Variant prioritization…”
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  2. 2

    Gene-specific machine learning model to predict the pathogenicity of BRCA2 variants by Mohannad N. Khandakji, Mohannad N. Khandakji, Borbala Mifsud, Borbala Mifsud

    Published in Frontiers in Genetics (2022-09-01)
    Subjects: “…variant prioritization…”
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  3. 3

    Explicable prioritization of genetic variants by integration of rule-based and machine learning algorithms for diagnosis of rare Mendelian disorders by Ho Heon Kim, Dong-Wook Kim, Junwoo Woo, Kyoungyeul Lee

    Published in Human Genomics (2024-03-01)
    Subjects: “…Variant prioritization…”
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  4. 4

    A practical guide to filtering and prioritizing genetic variants by Mahjoubeh Jalali Sefid Dashti, Junaid Gamieldien

    Published in BioTechniques (2017-01-01)
    Subjects: “…variant prioritization…”
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  5. 5

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

    Published in Human Genomics (2024-04-01)
    Subjects: “…Variant prioritization…”
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  6. 6

    ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization by Agatha Schlüter, Valentina Vélez-Santamaría, Edgard Verdura, Agustí Rodríguez-Palmero, Montserrat Ruiz, Stéphane Fourcade, Laura Planas-Serra, Nathalie Launay, Cristina Guilera, Juan José Martínez, Christian Homedes-Pedret, M. Antonia Albertí-Aguiló, Miren Zulaika, Itxaso Martí, Mónica Troncoso, Miguel Tomás-Vila, Gemma Bullich, M. Asunción García-Pérez, María-Jesús Sobrido-Gómez, Eduardo López-Laso, Carme Fons, Mireia Del Toro, Alfons Macaya, HSP/ataxia workgroup, Sergi Beltran, Luis G. Gutiérrez-Solana, Luis A. Pérez-Jurado, Sergio Aguilera-Albesa, Adolfo López de Munain, Carlos Casasnovas, Aurora Pujol

    Published in Genome Medicine (2023-09-01)
    Subjects: “…Variant prioritization…”
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  7. 7

    Starvar: symptom-based tool for automatic ranking of variants using evidence from literature and genomes by Șenay Kafkas, Marwa Abdelhakim, Mahmut Uludag, Azza Althagafi, Malak Alghamdi, Robert Hoehndorf

    Published in BMC Bioinformatics (2023-07-01)
    Subjects: “…Variant prioritization…”
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  8. 8

    Prioritization and functional assessment of noncoding variants associated with complex diseases by Lin Zhou, Fangqing Zhao

    Published in Genome Medicine (2018-07-01)
    Subjects: “…Variant prioritization…”
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  9. 9

    Editorial: From Sequence to Functional Interpretation: Sifting Through the Variation of Genomic Data by Andrea Ciolfi, Viviana Caputo, Daniel C. Koboldt, Paolo Uva

    Published in Frontiers in Genetics (2022-06-01)
    Subjects: “…variant prioritization…”
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  10. 10

    varCADD: large sets of standing genetic variation enable genome-wide pathogenicity prediction by Lusiné Nazaretyan, Philipp Rentzsch, Martin Kircher

    Published in Genome Medicine (2025-08-01)
    Subjects: “…Variant prioritization…”
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  11. 11

    Genome-wide association studies are enriched for interacting genes by Peter T. Nguyen, Simon G. Coetzee, Irina Silacheva, Dennis J. Hazelett

    Published in BioData Mining (2025-01-01)
    Subjects: “…Variant prioritization…”
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  12. 12

    Analysis of Regions of Homozygosity: Revisited Through New Bioinformatic Approaches by Susana Valente, Mariana Ribeiro, Jennifer Schnur, Filipe Alves, Nuno Moniz, Dominik Seelow, João Parente Freixo, Paulo Filipe Silva, Jorge Oliveira

    Published in BioMedInformatics (2024-12-01)
    Subjects: “…variant prioritization…”
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  13. 13

    ShapeGTB: the role of local DNA shape in prioritization of functional variants in human promoters with machine learning by Maja Malkowska, Julian Zubek, Dariusz Plewczynski, Lucjan S. Wyrwicz

    Published in PeerJ (2018-11-01)
    Subjects: “…Variant prioritization…”
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  14. 14

    Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing by Aayushi Srivastava, Aayushi Srivastava, Aayushi Srivastava, Aayushi Srivastava, Sara Giangiobbe, Sara Giangiobbe, Abhishek Kumar, Nagarajan Paramasivam, Dagmara Dymerska, Wolfgang Behnisch, Mathias Witzens-Harig, Jan Lubinski, Kari Hemminki, Kari Hemminki, Asta Försti, Asta Försti, Asta Försti, Obul Reddy Bandapalli, Obul Reddy Bandapalli, Obul Reddy Bandapalli, Obul Reddy Bandapalli

    Subjects: “…variant prioritization…”
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  15. 15

    Whole-exome sequencing and Drosophila modelling reveal mutated genes and pathways contributing to human ovarian failure by Ismael Henarejos-Castillo, Francisco José Sanz, Cristina Solana-Manrique, Patricia Sebastian-Leon, Ignacio Medina, José Remohi, Nuria Paricio, Patricia Diaz-Gimeno

    Published in Reproductive Biology and Endocrinology (2024-12-01)
    Subjects: “…Variant prioritization…”
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  16. 16

    VUS next in rare diseases? Deciphering genetic determinants of biomolecular condensation by María Heredia-Torrejón, Raúl Montañez, Antonio González-Meneses, Atilano Carcavilla, Miguel A. Medina, Alfonso M. Lechuga-Sancho

    Published in Orphanet Journal of Rare Diseases (2024-09-01)
    Subjects: “…Genetic variant prioritization…”
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