Guidelines for releasing a variant effect predictor

Autor: Livesey, Benjamin J., Badonyi, Mihaly, Dias, Mafalda, Frazer, Jonathan, Kumar, Sushant, Lindorff-Larsen, Kresten, McCandlish, David M., Orenbuch, Rose, Shearer, Courtney A., Muffley, Lara, Foreman, Julia, Glazer, Andrew M., Lehner, Ben, Marks, Debora S., Roth, Frederick P., Rubin, Alan F., Starita, Lea M., Marsh, Joseph A.

Computational methods for assessing the likely impacts of mutations, known as variant effect predictors (VEPs), are widely used in the assessment and interpretation of human genetic variation, as well as in other applications like protein engineering

Externí odkaz: http://arxiv.org/abs/2404.10807

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Guidelines for releasing a variant effect predictor.

Autor: Livesey BJ; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Badonyi M; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Dias M; Centre for Genomic Regulation (CRG),The Barcelona Institute of Science and Technology, Barcelona, Spain., Frazer J; Centre for Genomic Regulation (CRG),The Barcelona Institute of Science and Technology, Barcelona, Spain., Kumar S; Department of Medical Biophysics, University of Toronto; Princess Margaret Cancer Centre, University Health Network, Toronto, Ontario, Canada., Lindorff-Larsen K; Linderstrøm-Lang Centre for Protein Science, Department of Biology, University of Copenhagen, Copenhagen, Denmark., McCandlish DM; Simons Center for Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA., Orenbuch R; Department of Systems Biology, Harvard Medical School, Boston, MA, USA., Shearer CA; Department of Systems Biology, Harvard Medical School, Boston, MA, USA., Muffley L; Department of Genome Sciences, University of Washington and the Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Foreman J; European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK., Glazer AM; Vanderbilt University Medical Center, Nashville, TN, USA., Lehner B; Wellcome Sanger Institute, Cambridge, UK; Universitat Pompeu Fabra (UPF), Barcelona, Spain; Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain., Marks DS; Department of Systems Biology, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Boston, MA, USA., Roth FP; Department of Computational and Systems Biology, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Rubin AF; Bioinformatics Division, Walter and Eliza Hall Institute of Medical Research; Department of Medical Biology, University of Melbourne, Parkville, Australia., Starita LM; Department of Genome Sciences, University of Washington and the Brotman Baty Institute for Precision Medicine, Seattle, WA, USA., Marsh JA; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.

Publikováno v: ArXiv [ArXiv] 2024 Apr 16. Date of Electronic Publication: 2024 Apr 16.

Deep generative modeling of the human proteome reveals over a hundred novel genes involved in rare genetic disorders.

Autor: Orenbuch R; Marks Group, Department of Systems Biology, Harvard Medical School, Boston, MA, USA., Kollasch AW; Marks Group, Department of Systems Biology, Harvard Medical School, Boston, MA, USA., Spinner HD; Marks Group, Department of Systems Biology, Harvard Medical School, Boston, MA, USA., Shearer CA; Marks Group, Department of Systems Biology, Harvard Medical School, Boston, MA, USA., Hopf TA; Scientific Consulting, 85435 Erding, Germany., Franceschi D; Marks Group, Department of Systems Biology, Harvard Medical School, Boston, MA, USA., Dias M; Dias & Frazer Group, Centre for Genomic Regulation (CRG),The Barcelona Institute of Science and Technology, Barcelona, Spain.; University Pompeu Fabra, Barcelona, Spain., Frazer J; Dias & Frazer Group, Centre for Genomic Regulation (CRG),The Barcelona Institute of Science and Technology, Barcelona, Spain.; University Pompeu Fabra, Barcelona, Spain., Marks DS; Marks Group, Department of Systems Biology, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Nov 28. Date of Electronic Publication: 2023 Nov 28.