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Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.

Autor: Stenton SL; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., O'Leary M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Lemire G; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., VanNoy GE; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., DiTroia S; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ganesh VS; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Groopman E; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., O'Heir E; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Mangilog B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pais LS; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Serrano J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Singer-Berk M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Wilson M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Austin-Tse C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Abdelhakim M; Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia., Althagafi A; Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.; Computer, Electrical and Mathematical Sciences & Engineering Division (CEMSE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.; Computer Science Department, College of Computers and Information Technology, Taif University, Taif, Saudi Arabia., Babbi G; Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Bellazzi R; enGenome Srl, Pavia, Italy.; Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy., Bovo S; Department of Agricultural and Food Sciences, University of Bologna, Bologna, Italy., Carta MG; Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy., Casadio R; Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Coenen PJ; Invitae, San Francisco, California, USA., De Paoli F; enGenome Srl, Pavia, Italy., Floris M; Department of Biomedical Sciences, University of Sassari, Sassari, Italy., Gajapathy M; Center for Computational Genomics and Data Science, The University of Alabama at Birmingham, Birmingham, AL, USA.; Department of Genetics, Heersink School of Medicine, The University of Alabama at Birmingham, Birmingham, AL, USA.; Hugh Kaul Precision Medicine Institute, The University of Alabama at Birmingham, Birmingham, AL, USA., Hoehndorf R; Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.; Computer, Electrical and Mathematical Sciences & Engineering Division (CEMSE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia., Jacobsen JOB; William Harvey Research Institute, Barts & The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK., Joseph T; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Kamandula A; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Katsonis P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Kint C; Invitae, San Francisco, California, USA., Lichtarge O; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Structural and Computational Biology & Molecular Biophysics Program, Baylor College of Medicine, Houston, TX, USA.; Computational and Integrative Biomedical Research Center, Baylor College of Medicine, Houston, TX, USA., Limongelli I; enGenome Srl, Pavia, Italy., Lu Y; Center for molecular medicine, Pediatric Research Institute, Children's Hospital of Fudan University, Shanghai, China., Magni P; enGenome Srl, Pavia, Italy.; Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy., Mamidi TKK; Center for Computational Genomics and Data Science, The University of Alabama at Birmingham, Birmingham, AL, USA.; Department of Genetics, Heersink School of Medicine, The University of Alabama at Birmingham, Birmingham, AL, USA.; Hugh Kaul Precision Medicine Institute, The University of Alabama at Birmingham, Birmingham, AL, USA., Martelli PL; Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Mulargia M; Department of Biomedical Sciences, University of Sassari, Sassari, Italy., Nicora G; enGenome Srl, Pavia, Italy., Nykamp K; Invitae, San Francisco, California, USA., Pejaver V; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Peng Y; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Pham THC; Anatomy and Surgical Training Department, University of Medicine and Pharmacy, Hue University, Vietnam., Podda MS; Department of Biomedical Sciences, University of Sassari, Sassari, Italy., Rao A; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Rizzo E; enGenome Srl, Pavia, Italy., Saipradeep VG; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Savojardo C; Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Schols P; Invitae, San Francisco, California, USA., Shen Y; Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA.; Department of Computer Science and Engineering, Texas A&M University, College Station, TX, USA.; Institute of Biosciences and Technology and Department of Translational Medical Sciences, College of Medicine, Texas A&M University, Houston, Texas, USA., Sivadasan N; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Smedley D; William Harvey Research Institute, Barts & The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK., Soru D; Independent consultant., Srinivasan R; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Sun Y; Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA., Sunderam U; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Tan W; Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA., Tiwari N; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Wang X; Center for molecular medicine, Pediatric Research Institute, Children's Hospital of Fudan University, Shanghai, China., Wang Y; Center for molecular medicine, Pediatric Research Institute, Children's Hospital of Fudan University, Shanghai, China., Williams A; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Worthey EA; Center for Computational Genomics and Data Science, The University of Alabama at Birmingham, Birmingham, AL, USA.; Department of Genetics, Heersink School of Medicine, The University of Alabama at Birmingham, Birmingham, AL, USA.; Hugh Kaul Precision Medicine Institute, The University of Alabama at Birmingham, Birmingham, AL, USA., Yin R; Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA., You Y; Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA., Zeiberg D; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Zucca S; enGenome Srl, Pavia, Italy., Bakolitsa C; Department of Plant and Microbial Biology and Center for Computational Biology, University of California, Berkeley, CA, USA., Brenner SE; Department of Plant and Microbial Biology and Center for Computational Biology, University of California, Berkeley, CA, USA., Fullerton SM; Department of Bioethics & Humanities, University of Washington School of Medicine, Seattle, WA, USA., Radivojac P; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., O'Donnell-Luria A; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Aug 04. Date of Electronic Publication: 2023 Aug 04.