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Increased burden of...
Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia
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- Halvorsen, Matthew (author)
- The University of North Carolina System,University of North Carolina,Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA.
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- Huh, Ruth (author)
- The University of North Carolina System,University of North Carolina,Univ N Carolina, Dept Biostat, Chapel Hill, NC 27599 USA.
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- Oskolkov, Nikolay (author)
- Lund University,Lunds universitet,Molekylär cellbiologi,Biologiska institutionen,Naturvetenskapliga fakulteten,Molecular Cell Biology,Department of Biology,Faculty of Science,Lund Univ, Dept Biol, Sci Life Lab, Natl Bioinformat Infrastruct Sweden, S-22362 Lund, Sweden.
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- Wen, Jia (author)
- The University of North Carolina System,University of North Carolina,Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA.
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- Netotea, Sergiu, 1979 (author)
- Chalmers University of Technology,Chalmers Univ Technol, Sci Life Lab, Natl Bioinformat Infrastruct Sweden, Dept Biol & Biol Engn, S-41258 Gothenburg, Sweden.
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- Giusti-Rodriguez, Paola (author)
- The University of North Carolina System,University of North Carolina,Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA.
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- Karlsson, Robert (author)
- Karolinska Institutet,Karolinska Institute,Karolinska Inst, Dept Med Epidemiol & Biostat, S-17177 Stockholm, Sweden.
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- Bryois, Julien (author)
- Karolinska Institutet,Karolinska Institute,Karolinska Inst, Dept Med Epidemiol & Biostat, S-17177 Stockholm, Sweden.
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- Nystedt, Björn, 1978- (author)
- Uppsala universitet,Uppsala University,Molekylär evolution,Science for Life Laboratory, SciLifeLab
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- Ameur, Adam (author)
- Karolinska Institutet,Uppsala universitet,Uppsala University,Institutionen för immunologi, genetik och patologi,Science for Life Laboratory, SciLifeLab
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- Kähler, Anna K. (author)
- Karolinska Institute,Karolinska Inst, Dept Med Epidemiol & Biostat, S-17177 Stockholm, Sweden.
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- Ancalade, Na Eshia (author)
- The University of North Carolina System,University of North Carolina,Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA.
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- Farrell, Martilias (author)
- The University of North Carolina System,University of North Carolina,Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA.
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- Crowley, James J. (author)
- Karolinska Institute,University of North Carolina,Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA.;Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27599 USA.;Karolinska Inst, Dept Clin Neurosci, S-17177 Stockholm, Sweden.
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- Li, Yun (author)
- The University of North Carolina System,University of North Carolina,Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA.;Univ N Carolina, Dept Biostat, Chapel Hill, NC 27599 USA.
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- Magnusson, Patrik K.E. (author)
- Karolinska Institutet,Karolinska Institute,Karolinska Inst, Dept Med Epidemiol & Biostat, S-17177 Stockholm, Sweden.
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- Gyllensten, Ulf B. (author)
- Uppsala universitet,Uppsala University,Science for Life Laboratory, SciLifeLab,Medicinsk genetik och genomik
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- Hultman, Christina M. (author)
- Karolinska Institute,Karolinska Inst, Dept Med Epidemiol & Biostat, S-17177 Stockholm, Sweden.
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- Sullivan, Patrick F. (author)
- Karolinska Institutet,Karolinska Institute,University of North Carolina,Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA.;Karolinska Inst, Dept Med Epidemiol & Biostat, S-17177 Stockholm, Sweden.;Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27599 USA.
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- Szatkiewicz, Jin P. (author)
- The University of North Carolina System,University of North Carolina,Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA.;Univ N Carolina, Dept Psychiat, Chapel Hill, NC 27599 USA.
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(creator_code:org_t)
- 2020-04-15
- 2020
- English.
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In: Nature Communications. - : Springer Science and Business Media LLC. - 2041-1723 .- 2041-1723. ; 11:1, s. 1842-
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Abstract
Subject headings
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- Despite considerable progress in schizophrenia genetics, most findings have been for large rare structural variants and common variants in well-imputed regions with few genes implicated from exome sequencing. Whole genome sequencing (WGS) can potentially provide a more complete enumeration of etiological genetic variation apart from the exome and regions of high linkage disequilibrium. We analyze high-coverage WGS data from 1162 Swedish schizophrenia cases and 936 ancestry-matched population controls. Our main objective is to evaluate the contribution to schizophrenia etiology from a variety of genetic variants accessible to WGS but not by previous technologies. Our results suggest that ultra-rare structural variants that affect the boundaries of topologically associated domains (TADs) increase risk for schizophrenia. Alterations in TAD boundaries may lead to dysregulation of gene expression. Future mechanistic studies will be needed to determine the precise functional effects of these variants on biology.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- NATURVETENSKAP -- Biologi -- Bioinformatik och systembiologi (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Bioinformatics and Systems Biology (hsv//eng)
- NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Psykiatri (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Psychiatry (hsv//eng)
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- By the author/editor
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Halvorsen, Matth ...
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Huh, Ruth
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Oskolkov, Nikola ...
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Wen, Jia
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Netotea, Sergiu, ...
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Giusti-Rodriguez ...
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show more...
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Karlsson, Robert
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Bryois, Julien
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Nystedt, Björn, ...
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Ameur, Adam
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Kähler, Anna K.
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Ancalade, Na Esh ...
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Farrell, Martili ...
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Crowley, James J ...
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Li, Yun
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Magnusson, Patri ...
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Gyllensten, Ulf ...
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Hultman, Christi ...
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Sullivan, Patric ...
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Szatkiewicz, Jin ...
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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and Bioinformatics a ...
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- NATURAL SCIENCES
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NATURAL SCIENCES
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and Biological Scien ...
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and Genetics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Psychiatry
- Articles in the publication
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Nature Communica ...
- By the university
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Chalmers University of Technology
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Lund University
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Uppsala University
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Karolinska Institutet