作者:
Joon-Yong,An [1]
;
Kevin,Lin [2]
;
Lingxue,Zhu [2]
;
Donna M,Werling [1]
;
Shan,Dong [1]
;
Harrison,Brand [3]
;
Harold Z,Wang [4]
;
Xuefang,Zhao [5]
;
Grace B,Schwartz [3]
;
Ryan L,Collins [3]
;
Benjamin B,Currall [4]
;
Claudia,Dastmalchi [5]
;
Jeanselle,Dea [1]
;
Clif,Duhn [3]
;
Michael C,Gilson [4]
;
Lambertus,Klei [6]
;
Lindsay,Liang [3]
;
Eirene,Markenscoff-Papadimitriou [4]
;
Sirisha,Pochareddy [5]
;
Nadav,Ahituv [1]
;
Joseph D,Buxbaum [1]
;
Hilary,Coon [1]
;
Mark J,Daly [1]
;
Young Shin,Kim [7]
;
Gabor T,Marth [1]
;
Benjamin M,Neale [1]
;
Aaron R,Quinlan [8]
;
John L,Rubenstein [9]
;
Nenad,Sestan [10]
;
Matthew W,State [11]
;
A Jeremy,Willsey [12]
;
Michael E,Talkowski [13]
;
Bernie,Devlin [14]
;
Kathryn,Roeder [15]
;
Stephan J,Sanders [16]
作者单位:
Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.
[1]
Department of Statistics and Data Science, Carnegie Mellon University, Pittsburgh, PA 15213, USA.
[2]
Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
[3]
Department of Neurology, Harvard Medical School, Boston, MA, USA.
[4]
Program in Medical and Population Genetics and the Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA.
[5]
Program in Bioinformatics and Integrative Genomics, Division of Medical Sciences, Harvard Medical School, Boston, MA, USA.
[6]
Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA.
[7]
Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT 06510, USA.
[8]
Department of Bioengineering and Therapeutic Sciences, University of California, San Francisco, CA, USA.
[9]
Institute for Human Genetics, University of California, San Francisco, CA, USA.
[10]
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
[11]
Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
[12]
Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
[13]
Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
[14]
Department of Psychiatry, University of Utah School of Medicine, Salt Lake City, UT, USA.
[15]
Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, UT, USA.
[16]
Analytical and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
[17]
Department of Medicine, Harvard Medical School, Boston, MA, USA.
[18]
Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA.
[19]
USTAR Center for Genetic Discovery, University of Utah School of Medicine, Salt Lake City, UT, USA.
[20]
Institute for Neurodegenerative Diseases, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA.
[21]
Quantitative Biosciences Institute, University of California, San Francisco, CA, USA.
[22]
Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital, Boston, MA, USA. talkowski@chgr.mgh.harvard.edu devlinbj@upmc.edu roeder@andrew.cmu.edu stephan.sanders@ucsf.edu.
[23]
Departments of Pathology and Psychiatry, Massachusetts General Hospital, Boston, MA, USA.
[24]
Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA 15213, USA. talkowski@chgr.mgh.harvard.edu devlinbj@upmc.edu roeder@andrew.cmu.edu stephan.sanders@ucsf.edu.
[25]
Department of Statistics and Data Science, Carnegie Mellon University, Pittsburgh, PA 15213, USA. talkowski@chgr.mgh.harvard.edu devlinbj@upmc.edu roeder@andrew.cmu.edu stephan.sanders@ucsf.edu.
[26]
Computational Biology Department, Carnegie Mellon University, Pittsburgh, PA 15213, USA.
[27]
Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, CA, USA. talkowski@chgr.mgh.harvard.edu devlinbj@upmc.edu roeder@andrew.cmu.edu stephan.sanders@ucsf.edu.
[28]
主题词
结合部位(Binding Sites);保守序列(Conserved Sequence);DNA突变分析(DNA Mutational Analysis);基因座(Genetic Loci);遗传变异(Genetic Variation);人类(Humans);突变(Mutation);系谱(Pedigree);启动区, 遗传(Promoter Regions, Genetic);危险(Risk);转录因子(Transcription Factors)
DOI
10.1126/science.aat6576
PMID
30545852
发布时间
2024-07-15
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Science (New York, N.Y.)
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