An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.
第一作者:
Donna M,Werling
第一单位:
Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
作者:
Donna M,Werling [1]
;
Harrison,Brand [2]
;
Joon-Yong,An [1]
;
Matthew R,Stone [3]
;
Lingxue,Zhu [4]
;
Joseph T,Glessner [2]
;
Ryan L,Collins [5]
;
Shan,Dong [1]
;
Ryan M,Layer [6]
;
Eirene,Markenscoff-Papadimitriou [1]
;
Andrew,Farrell [6]
;
Grace B,Schwartz [1]
;
Harold Z,Wang [3]
;
Benjamin B,Currall [2]
;
Xuefang,Zhao [2]
;
Jeanselle,Dea [1]
;
Clif,Duhn [1]
;
Carolyn A,Erdman [1]
;
Michael C,Gilson [1]
;
Rachita,Yadav [2]
;
Robert E,Handsaker [7]
;
Seva,Kashin [7]
;
Lambertus,Klei [8]
;
Jeffrey D,Mandell [1]
;
Tomasz J,Nowakowski [9]
;
Yuwen,Liu [10]
;
Sirisha,Pochareddy [11]
;
Louw,Smith [1]
;
Michael F,Walker [1]
;
Matthew J,Waterman [12]
;
Xin,He [10]
;
Arnold R,Kriegstein [13]
;
John L,Rubenstein [1]
;
Nenad,Sestan [11]
;
Steven A,McCarroll [7]
;
Benjamin M,Neale [14]
;
Hilary,Coon [15]
;
A Jeremy,Willsey [16]
;
Joseph D,Buxbaum [17]
;
Mark J,Daly [14]
;
Matthew W,State [1]
;
Aaron R,Quinlan [18]
;
Gabor T,Marth [6]
;
Kathryn,Roeder [19]
;
Bernie,Devlin [20]
;
Michael E,Talkowski [21]
;
Stephan J,Sanders [22]
作者单位:
Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
[1]
Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.;Department of Neurology, Harvard Medical School, Boston, MA, USA.;Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA.
[2]
Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.
[3]
Department of Statistics, Carnegie Mellon University, Pittsburgh, PA, USA.
[4]
Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital, Boston, MA, USA.;Department of Neurology, Harvard Medical School, Boston, MA, USA.;Program in Bioinformatics and Integrative Genomics, Division of Medical Sciences, Harvard Medical School, Boston, MA, USA.
[5]
Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA.;USTAR Center for Genetic Discovery, University of Utah School of Medicine, Salt Lake City, UT, USA.
[6]
Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA.;Department of Genetics, Harvard Medical School, Boston, MA, USA.
[7]
Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA.
[8]
Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.;Department of Anatomy, University of California, San Francisco, San Francisco, CA, USA.;Eli and Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, CA, USA.
[9]
Department of Human Genetics, University of Chicago, Chicago, IL, USA.
[10]
Department of Neuroscience and Kavli Institute for Neuroscience, Yale School of Medicine, New Haven, CT, USA.
[11]
Department of Biology, Eastern Nazarene College, Quincy, MA, USA.
[12]
Department of Neurology, University of California, San Francisco, San Francisco, CA, USA.
[13]
Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA.;Analytical and Translational Genetics Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.;Department of Medicine, Harvard Medical School, Boston, MA, USA.
[14]
Department of Psychiatry, University of Utah School of Medicine, Salt Lake City, UT, USA.;Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, UT, USA.
[15]
Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.;Institute for Neurodegenerative Diseases, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA.
[16]
Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY, USA.;Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, USA.;Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.;Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY, USA.
[17]
Department of Human Genetics, University of Utah School of Medicine, Salt Lake City, UT, USA.;USTAR Center for Genetic Discovery, University of Utah School of Medicine, Salt Lake City, UT, USA.;Department of Biomedical Informatics, University of Utah School of Medicine, Salt Lake City, UT, USA.
[18]
Department of Statistics, Carnegie Mellon University, Pittsburgh, PA, USA.;Department of Computational Biology, Carnegie Mellon University, Pittsburgh, PA, USA.
[19]
Department of Psychiatry, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA. devlinbj@upmc.edu.
[20]
Center for Genomic Medicine and Department of Neurology, Massachusetts General Hospital, Boston, MA, USA. talkowski@chgr.mgh.harvard.edu.;Department of Neurology, Harvard Medical School, Boston, MA, USA. talkowski@chgr.mgh.harvard.edu.;Program in Medical and Population Genetics and Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA. talkowski@chgr.mgh.harvard.edu.;Departments of Pathology and Psychiatry, Massachusetts General Hospital, Boston, MA, USA. talkowski@chgr.mgh.harvard.edu.
[21]
Department of Psychiatry, UCSF Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA, USA. stephan.sanders@ucsf.edu.
[22]
主题词
女(雌)性(Female);疾病遗传易感性(Genetic Predisposition to Disease);基因组(Genome);全基因组关联研究(Genome-Wide Association Study);人类(Humans);INDEL突变(INDEL Mutation);男(雄)性(Male);多态性, 单核苷酸(Polymorphism, Single Nucleotide);蛋白质亚型(Protein Isoforms)
DOI
10.1038/s41588-018-0107-y
PMID
29700473
发布时间
2021-03-27
- 浏览3
Nature genetics
Nature genetics
727-736页
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