换一批
第一作者：
Wen-Wei,Liao
第一单位：
Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.;Center for Genomic Health, Yale University School of Medicine, New Haven, CT, USA.;Division of Biology and Biomedical Sciences, Washington University School of Medicine, St. Louis, MO, USA.
作者：
Wen-Wei,Liao [1]
;
Mobin,Asri [2]
;
Jana,Ebler [3]
;
Daniel,Doerr [3]
;
Marina,Haukness [2]
;
Glenn,Hickey [2]
;
Shuangjia,Lu [4]
;
Julian K,Lucas [2]
;
Jean,Monlong [2]
;
Haley J,Abel [5]
;
Silvia,Buonaiuto [6]
;
Xian H,Chang [2]
;
Haoyu,Cheng [7]
;
Justin,Chu [8]
;
Vincenza,Colonna [9]
;
Jordan M,Eizenga [2]
;
Xiaowen,Feng [7]
;
Christian,Fischer [10]
;
Robert S,Fulton [11]
;
Shilpa,Garg [12]
;
Cristian,Groza [13]
;
Andrea,Guarracino [14]
;
William T,Harvey [15]
;
Simon,Heumos [16]
;
Kerstin,Howe [17]
;
Miten,Jain [18]
;
Tsung-Yu,Lu [19]
;
Charles,Markello [2]
;
Fergal J,Martin [20]
;
Matthew W,Mitchell [21]
;
Katherine M,Munson [15]
;
Moses Njagi,Mwaniki [22]
;
Adam M,Novak [2]
;
Hugh E,Olsen [2]
;
Trevor,Pesout [2]
;
David,Porubsky [15]
;
Pjotr,Prins [10]
;
Jonas A,Sibbesen [23]
;
Jouni,Sirén [2]
;
Chad,Tomlinson [24]
;
Flavia,Villani [10]
;
Mitchell R,Vollger [25]
;
Lucinda L,Antonacci-Fulton [24]
;
Gunjan,Baid [26]
;
Carl A,Baker [15]
;
Anastasiya,Belyaeva [26]
;
Konstantinos,Billis [20]
;
Andrew,Carroll [26]
;
Pi-Chuan,Chang [26]
;
Sarah,Cody [24]
;
Daniel E,Cook [26]
;
Robert M,Cook-Deegan [27]
;
Omar E,Cornejo [28]
;
Mark,Diekhans [2]
;
Peter,Ebert [29]
;
Susan,Fairley [20]
;
Olivier,Fedrigo [30]
;
Adam L,Felsenfeld [31]
;
Giulio,Formenti [30]
;
Adam,Frankish [20]
;
Yan,Gao [32]
;
Nanibaa' A,Garrison [33]
;
Carlos Garcia,Giron [20]
;
Richard E,Green [34]
;
Leanne,Haggerty [20]
;
Kendra,Hoekzema [15]
;
Thibaut,Hourlier [20]
;
Hanlee P,Ji [35]
;
Eimear E,Kenny [36]
;
Barbara A,Koenig [37]
;
Alexey,Kolesnikov [26]
;
Jan O,Korbel [38]
;
Jennifer,Kordosky [15]
;
Sergey,Koren [39]
;
HoJoon,Lee [35]
;
Alexandra P,Lewis [15]
;
Hugo,Magalhães [3]
;
Santiago,Marco-Sola [40]
;
Pierre,Marijon [3]
;
Ann,McCartney [39]
;
Jennifer,McDaniel [41]
;
Jacquelyn,Mountcastle [30]
;
Maria,Nattestad [26]
;
Sergey,Nurk [39]
;
Nathan D,Olson [41]
;
Alice B,Popejoy [42]
;
Daniela,Puiu [43]
;
Mikko,Rautiainen [39]
;
Allison A,Regier [24]
;
Arang,Rhie [39]
;
Samuel,Sacco [28]
;
Ashley D,Sanders [44]
;
Valerie A,Schneider [45]
;
Baergen I,Schultz [31]
;
Kishwar,Shafin [26]
;
Michael W,Smith [31]
;
Heidi J,Sofia [31]
;
Ahmad N,Abou Tayoun [46]
;
Françoise,Thibaud-Nissen [45]
;
Francesca Floriana,Tricomi [20]
;
Justin,Wagner [41]
;
Brian,Walenz [39]
;
Jonathan M D,Wood [17]
;
Aleksey V,Zimin [47]
;
Guillaume,Bourque [48]
;
Mark J P,Chaisson [19]
;
Paul,Flicek [20]
;
Adam M,Phillippy [39]
;
Justin M,Zook [41]
;
Evan E,Eichler [49]
;
David,Haussler [50]
;
Ting,Wang [11]
;
Erich D,Jarvis [51]
;
Karen H,Miga [2]
;
Erik,Garrison [52]
;
Tobias,Marschall [53]
;
Ira M,Hall [54]
;
Heng,Li [55]
;
Benedict,Paten [56]
作者单位：
Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.;Center for Genomic Health, Yale University School of Medicine, New Haven, CT, USA.;Division of Biology and Biomedical Sciences, Washington University School of Medicine, St. Louis, MO, USA.
[1]
Genomics Institute, University of California, Santa Cruz, CA, USA.
[2]
Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.;Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.
[3]
Department of Genetics, Yale University School of Medicine, New Haven, CT, USA.;Center for Genomic Health, Yale University School of Medicine, New Haven, CT, USA.
[4]
Division of Oncology, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO, USA.
[5]
Institute of Genetics and Biophysics, National Research Council, Naples, Italy.
[6]
Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.;Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA.
[7]
Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA.
[8]
Institute of Genetics and Biophysics, National Research Council, Naples, Italy.;Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.
[9]
Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.
[10]
McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.;Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.
[11]
Novo Nordisk Foundation Center for Biosustainability, Technical University of Denmark, Copenhagen, Denmark.
[12]
Quantitative Life Sciences, McGill University, Montréal, Québec, Canada.
[13]
Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA.;Genomics Research Centre, Human Technopole, Milan, Italy.
[14]
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
[15]
Quantitative Biology Center (QBiC), University of Tübingen, Tübingen, Germany.;Biomedical Data Science, Department of Computer Science, University of Tübingen, Tübingen, Germany.
[16]
Tree of Life, Wellcome Sanger Institute, Hinxton, Cambridge, UK.
[17]
Northeastern University, Boston, MA, USA.
[18]
Department of Quantitative and Computational Biology, University of Southern California, Los Angeles, CA, USA.
[19]
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.
[20]
Coriell Institute for Medical Research, Camden, NJ, USA.
[21]
Department of Computer Science, University of Pisa, Pisa, Italy.
[22]
Center for Health Data Science, University of Copenhagen, Copenhagen, Denmark.
[23]
McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.
[24]
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.;Division of Medical Genetics, University of Washington School of Medicine, Seattle, WA, USA.
[25]
Google, Mountain View, CA, USA.
[26]
Barrett and O'Connor Washington Center, Arizona State University, Washington, DC, USA.
[27]
Department of Ecology and Evolutionary Biology, University of California, Santa Cruz, CA, USA.
[28]
Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.;Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany.;Core Unit Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany.
[29]
Vertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA.
[30]
National Institutes of Health (NIH)-National Human Genome Research Institute, Bethesda, MD, USA.
[31]
Center for Computational and Genomic Medicine, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
[32]
Institute for Society and Genetics, College of Letters and Science, University of California, Los Angeles, CA, USA.;Institute for Precision Health, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.;Division of General Internal Medicine and Health Services Research, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
[33]
Department of Biomolecular Engineering, University of California, Santa Cruz, CA, USA.;Dovetail Genomics, Scotts Valley, CA, USA.
[34]
Division of Oncology, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.
[35]
Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
[36]
Program in Bioethics and Institute for Human Genetics, University of California, San Francisco, CA, USA.
[37]
European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, Cambridge, UK.;Genome Biology Unit, European Molecular Biology Laboratory, Heidelberg, Germany.
[38]
Genome Informatics Section, Computational and Statistical Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.
[39]
Computer Sciences Department, Barcelona Supercomputing Center, Barcelona, Spain.;Departament d'Arquitectura de Computadors i Sistemes Operatius, Universitat Autònoma de Barcelona, Barcelona, Spain.
[40]
Material Measurement Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA.
[41]
Department of Public Health Sciences, University of California, Davis, CA, USA.
[42]
Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.
[43]
Berlin Institute for Medical Systems Biology, Max Delbrück Center for Molecular Medicine in the Helmholtz Association, Berlin, Germany.
[44]
National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA.
[45]
Al Jalila Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai, UAE.;Center for Genomic Discovery, Mohammed Bin Rashid University of Medicine and Health Sciences, Dubai, UAE.
[46]
Department of Biomedical Engineering, Johns Hopkins University, Baltimore, MD, USA.;Center for Computational Biology, Johns Hopkins University, Baltimore, MD, USA.
[47]
Department of Human Genetics, McGill University, Montréal, Québec, Canada.;Canadian Center for Computational Genomics, McGill University, Montréal, Québec, Canada.;Institute for the Advanced Study of Human Biology (WPI-ASHBi), Kyoto University, Kyoto, Japan.
[48]
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.;Howard Hughes Medical Institute, Chevy Chase, MD, USA.
[49]
Genomics Institute, University of California, Santa Cruz, CA, USA.;Howard Hughes Medical Institute, Chevy Chase, MD, USA.
[50]
Vertebrate Genome Laboratory, The Rockefeller University, New York, NY, USA.;Howard Hughes Medical Institute, Chevy Chase, MD, USA.;Laboratory of Neurogenetics of Language, The Rockefeller University, New York, NY, USA.
[51]
Department of Genetics, Genomics and Informatics, University of Tennessee Health Science Center, Memphis, TN, USA. egarris5@uthsc.edu.
[52]
Institute for Medical Biometry and Bioinformatics, Medical Faculty, Heinrich Heine University, Düsseldorf, Germany. tobias.marschall@hhu.de.;Center for Digital Medicine, Heinrich Heine University, Düsseldorf, Germany. tobias.marschall@hhu.de.
[53]
Department of Genetics, Yale University School of Medicine, New Haven, CT, USA. ira.hall@yale.edu.;Center for Genomic Health, Yale University School of Medicine, New Haven, CT, USA. ira.hall@yale.edu.
[54]
Department of Data Sciences, Dana-Farber Cancer Institute, Boston, MA, USA. hli@jimmy.harvard.edu.;Department of Biomedical Informatics, Harvard Medical School, Boston, MA, USA. hli@jimmy.harvard.edu.
[55]
Genomics Institute, University of California, Santa Cruz, CA, USA. bpaten@ucsc.edu.
[56]
医学主题词
人类(Humans);二倍性(Diploidy);基因组, 人(Genome, Human);单倍型(Haplotypes);序列分析, DNA(Sequence Analysis, DNA);基因组学(Genomics);参考标准(Reference Standards);队列研究(Cohort Studies);等位基因(Alleles);遗传变异(Genetic Variation)
DOI
10.1038/s41586-023-05896-x
PMID
37165242
发布时间
2026-03-07
- 浏览0
Nature
Nature
312-324页
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