换一批Critical assessment of variant prioritization methods for rare disease diagnosis within the Rare Genomes Project.
第一作者：
Sarah L,Stenton
第一单位：
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.
作者：
Sarah L,Stenton [1]
;
Melanie,O'Leary [2]
;
Gabrielle,Lemire [3]
;
Grace E,VanNoy [2]
;
Stephanie,DiTroia [3]
;
Vijay S,Ganesh [4]
;
Emily,Groopman [3]
;
Emily,O'Heir [3]
;
Brian,Mangilog [2]
;
Ikeoluwa,Osei-Owusu [2]
;
Lynn S,Pais [3]
;
Jillian,Serrano [3]
;
Moriel,Singer-Berk [2]
;
Ben,Weisburd [2]
;
Michael,Wilson [2]
;
Christina,Austin-Tse [5]
;
Marwa,Abdelhakim [6]
;
Azza,Althagafi [7]
;
Giulia,Babbi [8]
;
Riccardo,Bellazzi [9]
;
Samuele,Bovo [10]
;
Maria Giulia,Carta [11]
;
Rita,Casadio [8]
;
Pieter-Jan,Coenen [12]
;
Federica,De Paoli [13]
;
Matteo,Floris [14]
;
Manavalan,Gajapathy [15]
;
Robert,Hoehndorf [16]
;
Julius O B,Jacobsen [17]
;
Thomas,Joseph [18]
;
Akash,Kamandula [19]
;
Panagiotis,Katsonis [20]
;
Cyrielle,Kint [12]
;
Olivier,Lichtarge [21]
;
Ivan,Limongelli [13]
;
Yulan,Lu [22]
;
Paolo,Magni [9]
;
Tarun Karthik Kumar,Mamidi [15]
;
Pier Luigi,Martelli [8]
;
Marta,Mulargia [14]
;
Giovanna,Nicora [13]
;
Keith,Nykamp [12]
;
Vikas,Pejaver [23]
;
Yisu,Peng [19]
;
Thi Hong Cam,Pham [24]
;
Maurizio S,Podda [14]
;
Aditya,Rao [18]
;
Ettore,Rizzo [13]
;
Vangala G,Saipradeep [18]
;
Castrense,Savojardo [8]
;
Peter,Schols [12]
;
Yang,Shen [25]
;
Naveen,Sivadasan [18]
;
Damian,Smedley [17]
;
Dorian,Soru [26]
;
Rajgopal,Srinivasan [18]
;
Yuanfei,Sun [27]
;
Uma,Sunderam [18]
;
Wuwei,Tan [27]
;
Naina,Tiwari [18]
;
Xiao,Wang [22]
;
Yaqiong,Wang [22]
;
Amanda,Williams [20]
;
Elizabeth A,Worthey [15]
;
Rujie,Yin [27]
;
Yuning,You [27]
;
Daniel,Zeiberg [19]
;
Susanna,Zucca [13]
;
Constantina,Bakolitsa [28]
;
Steven E,Brenner [28]
;
Stephanie M,Fullerton [29]
;
Predrag,Radivojac [19]
;
Heidi L,Rehm [5]
;
Anne,O'Donnell-Luria [1]
作者单位：
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.
[1]
Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
[2]
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.
[3]
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.
[4]
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.
[5]
Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.
[6]
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.
[7]
Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy.
[8]
enGenome Srl, Pavia, Italy.;Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy.
[9]
Department of Agricultural and Food Sciences, University of Bologna, Bologna, Italy.
[10]
Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy.
[11]
Invitae, San Francisco, California, USA.
[12]
enGenome Srl, Pavia, Italy.
[13]
Department of Biomedical Sciences, University of Sassari, Sassari, Italy.
[14]
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.
[15]
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.
[16]
William Harvey Research Institute, Barts & The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK.
[17]
TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India.
[18]
Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA.
[19]
Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.
[20]
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.
[21]
Center for molecular medicine, Pediatric Research Institute, Children's Hospital of Fudan University, Shanghai, China.
[22]
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.
[23]
Anatomy and Surgical Training Department, University of Medicine and Pharmacy, Hue University, Vietnam.
[24]
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.
[25]
Independent consultant.
[26]
Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA.
[27]
Department of Plant and Microbial Biology and Center for Computational Biology, University of California, Berkeley, CA, USA.
[28]
Department of Bioethics & Humanities, University of Washington School of Medicine, Seattle, WA, USA.
[29]
DOI
10.1101/2023.08.02.23293212
PMID
37577678
发布时间
2024-11-07
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medRxiv
medRxiv
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