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

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Title: Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
Authors: 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 MC; 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 MW; 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; Computer, Electrical and Mathematical Sciences and Engineering Division (CEMSE), King Abdullah University of Science and Technology (KAUST), 23955-6900, Thuwal, Saudi Arabia.; Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), 23955-6900, Thuwal, Saudi Arabia., Althagafi A; Computer, Electrical and Mathematical Sciences and Engineering Division (CEMSE), King Abdullah University of Science and Technology (KAUST), 23955-6900, Thuwal, Saudi Arabia.; Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), 23955-6900, 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, CA, USA.; Codon One, Louvain, EU, Belgium., 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; Computer, Electrical and Mathematical Sciences and Engineering Division (CEMSE), King Abdullah University of Science and Technology (KAUST), 23955-6900, Thuwal, Saudi Arabia.; Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), 23955-6900, 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 and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Kint C; Invitae, San Francisco, CA, USA., Lichtarge O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Structural and Computational Biology and 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; 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.; Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy., Nykamp K; Invitae, San Francisco, CA, 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; University of Medicine and Pharmacy, Hue University, Hue, Vietnam., Podda MS; Department of Biomedical Sciences, University of Sassari, Sassari, Italy.; Institute of Clinical Physiology (IFC), CNR, Via Moruzzi 1, 56124, Pisa, Italy.; University of Siena, Siena, Italy.; CTGLab, Institute of Informatics and Telematics (IIT), CNR, ViaMoruzzi 1, 56124, Pisa, 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, CA, USA.; Codon One, Louvain, EU, Belgium., 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, TX, 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, Ovodda, Italy., 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 and 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 and 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. odonnell@broadinstitute.org.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. odonnell@broadinstitute.org.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. odonnell@broadinstitute.org.
Source: Human genomics [Hum Genomics] 2024 Apr 29; Vol. 18 (1), pp. 44. Date of Electronic Publication: 2024 Apr 29.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Label: Title
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  Data: Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
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  Label: Authors
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  Data: <searchLink fieldCode="AU" term="%22Stenton+SL%22">Stenton SL</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22O'Leary+MC%22">O'Leary MC</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Lemire+G%22">Lemire G</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22VanNoy+GE%22">VanNoy GE</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22DiTroia+S%22">DiTroia S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Ganesh+VS%22">Ganesh VS</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Groopman+E%22">Groopman E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22O'Heir+E%22">O'Heir E</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Mangilog+B%22">Mangilog B</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Osei-Owusu+I%22">Osei-Owusu I</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Pais+LS%22">Pais LS</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Serrano+J%22">Serrano J</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Singer-Berk+M%22">Singer-Berk M</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Weisburd+B%22">Weisburd B</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Wilson+MW%22">Wilson MW</searchLink>; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Austin-Tse+C%22">Austin-Tse C</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Abdelhakim+M%22">Abdelhakim M</searchLink>; Computer, Electrical and Mathematical Sciences and Engineering Division (CEMSE), King Abdullah University of Science and Technology (KAUST), 23955-6900, Thuwal, Saudi Arabia.; Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), 23955-6900, Thuwal, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Althagafi+A%22">Althagafi A</searchLink>; Computer, Electrical and Mathematical Sciences and Engineering Division (CEMSE), King Abdullah University of Science and Technology (KAUST), 23955-6900, Thuwal, Saudi Arabia.; Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), 23955-6900, Thuwal, Saudi Arabia.; Computer Science Department, College of Computers and Information Technology, Taif University, Taif, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Babbi+G%22">Babbi G</searchLink>; Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Bellazzi+R%22">Bellazzi R</searchLink>; enGenome Srl, Pavia, Italy.; Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Bovo+S%22">Bovo S</searchLink>; Department of Agricultural and Food Sciences, University of Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Carta+MG%22">Carta MG</searchLink>; Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Casadio+R%22">Casadio R</searchLink>; Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Coenen+PJ%22">Coenen PJ</searchLink>; Invitae, San Francisco, CA, USA.; Codon One, Louvain, EU, Belgium.<br /><searchLink fieldCode="AU" term="%22De+Paoli+F%22">De Paoli F</searchLink>; enGenome Srl, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Floris+M%22">Floris M</searchLink>; Department of Biomedical Sciences, University of Sassari, Sassari, Italy.<br /><searchLink fieldCode="AU" term="%22Gajapathy+M%22">Gajapathy M</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Hoehndorf+R%22">Hoehndorf R</searchLink>; Computer, Electrical and Mathematical Sciences and Engineering Division (CEMSE), King Abdullah University of Science and Technology (KAUST), 23955-6900, Thuwal, Saudi Arabia.; Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), 23955-6900, Thuwal, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Jacobsen+JOB%22">Jacobsen JOB</searchLink>; William Harvey Research Institute, Barts & The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK.<br /><searchLink fieldCode="AU" term="%22Joseph+T%22">Joseph T</searchLink>; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Kamandula+A%22">Kamandula A</searchLink>; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Katsonis+P%22">Katsonis P</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Kint+C%22">Kint C</searchLink>; Invitae, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Lichtarge+O%22">Lichtarge O</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Structural and Computational Biology and Molecular Biophysics Program, Baylor College of Medicine, Houston, TX, USA.; Computational and Integrative Biomedical Research Center, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Limongelli+I%22">Limongelli I</searchLink>; enGenome Srl, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Lu+Y%22">Lu Y</searchLink>; Center for Molecular Medicine, Pediatric Research Institute, Children's Hospital of Fudan University, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Magni+P%22">Magni P</searchLink>; Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Mamidi+TKK%22">Mamidi TKK</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Martelli+PL%22">Martelli PL</searchLink>; Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Mulargia+M%22">Mulargia M</searchLink>; Department of Biomedical Sciences, University of Sassari, Sassari, Italy.<br /><searchLink fieldCode="AU" term="%22Nicora+G%22">Nicora G</searchLink>; enGenome Srl, Pavia, Italy.; Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Nykamp+K%22">Nykamp K</searchLink>; Invitae, San Francisco, CA, USA.<br /><searchLink fieldCode="AU" term="%22Pejaver+V%22">Pejaver V</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Peng+Y%22">Peng Y</searchLink>; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Pham+THC%22">Pham THC</searchLink>; University of Medicine and Pharmacy, Hue University, Hue, Vietnam.<br /><searchLink fieldCode="AU" term="%22Podda+MS%22">Podda MS</searchLink>; Department of Biomedical Sciences, University of Sassari, Sassari, Italy.; Institute of Clinical Physiology (IFC), CNR, Via Moruzzi 1, 56124, Pisa, Italy.; University of Siena, Siena, Italy.; CTGLab, Institute of Informatics and Telematics (IIT), CNR, ViaMoruzzi 1, 56124, Pisa, Italy.<br /><searchLink fieldCode="AU" term="%22Rao+A%22">Rao A</searchLink>; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Rizzo+E%22">Rizzo E</searchLink>; enGenome Srl, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Saipradeep+VG%22">Saipradeep VG</searchLink>; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Savojardo+C%22">Savojardo C</searchLink>; Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Schols+P%22">Schols P</searchLink>; Invitae, San Francisco, CA, USA.; Codon One, Louvain, EU, Belgium.<br /><searchLink fieldCode="AU" term="%22Shen+Y%22">Shen Y</searchLink>; 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, TX, USA.<br /><searchLink fieldCode="AU" term="%22Sivadasan+N%22">Sivadasan N</searchLink>; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Smedley+D%22">Smedley D</searchLink>; William Harvey Research Institute, Barts & The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK.<br /><searchLink fieldCode="AU" term="%22Soru+D%22">Soru D</searchLink>; Independent Consultant, Ovodda, Italy.<br /><searchLink fieldCode="AU" term="%22Srinivasan+R%22">Srinivasan R</searchLink>; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Sun+Y%22">Sun Y</searchLink>; Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA.<br /><searchLink fieldCode="AU" term="%22Sunderam+U%22">Sunderam U</searchLink>; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Tan+W%22">Tan W</searchLink>; Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA.<br /><searchLink fieldCode="AU" term="%22Tiwari+N%22">Tiwari N</searchLink>; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India.<br /><searchLink fieldCode="AU" term="%22Wang+X%22">Wang X</searchLink>; Center for Molecular Medicine, Pediatric Research Institute, Children's Hospital of Fudan University, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Wang+Y%22">Wang Y</searchLink>; Center for Molecular Medicine, Pediatric Research Institute, Children's Hospital of Fudan University, Shanghai, China.<br /><searchLink fieldCode="AU" term="%22Williams+A%22">Williams A</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Worthey+EA%22">Worthey EA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Yin+R%22">Yin R</searchLink>; Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA.<br /><searchLink fieldCode="AU" term="%22You+Y%22">You Y</searchLink>; Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA.<br /><searchLink fieldCode="AU" term="%22Zeiberg+D%22">Zeiberg D</searchLink>; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Zucca+S%22">Zucca S</searchLink>; enGenome Srl, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Bakolitsa+C%22">Bakolitsa C</searchLink>; Department of Plant and Microbial Biology and Center for Computational Biology, University of California, Berkeley, CA, USA.<br /><searchLink fieldCode="AU" term="%22Brenner+SE%22">Brenner SE</searchLink>; Department of Plant and Microbial Biology and Center for Computational Biology, University of California, Berkeley, CA, USA.<br /><searchLink fieldCode="AU" term="%22Fullerton+SM%22">Fullerton SM</searchLink>; Department of Bioethics and Humanities, University of Washington School of Medicine, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Radivojac+P%22">Radivojac P</searchLink>; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Rehm+HL%22">Rehm HL</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22O'Donnell-Luria+A%22">O'Donnell-Luria A</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. odonnell@broadinstitute.org.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. odonnell@broadinstitute.org.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. odonnell@broadinstitute.org.
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  Data: <searchLink fieldCode="JN" term="%22101202210%22">Human genomics</searchLink> [Hum Genomics] 2024 Apr 29; Vol. 18 (1), pp. 44. <i>Date of Electronic Publication: </i>2024 Apr 29.
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        Value: 10.1186/s40246-024-00604-w
    Languages:
      – Code: eng
        Text: English
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      – TitleFull: Critical assessment of variant prioritization methods for rare disease diagnosis within the rare genomes project.
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            – D: 29
              M: 04
              Text: 2024 Apr 29
              Type: published
              Y: 2024
          Identifiers:
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            – TitleFull: Human genomics
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ResultId 1