Functional annotation of rare structural variation in the human brain
Structural variants (SVs) contribute to the genetic architecture of many brain-related disorders. Here, the authors integrate SV calls from genome sequencing (n = 755) with RNA-seq data (n = 629) from post-mortem dorsal lateral prefrontal cortex to annotate the gene regulatory effects of SVs in the ...
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Nature Portfolio
2020
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oai:doaj.org-article:d5da8027a19c4487875263a8dbf5c81b2021-12-02T17:52:09ZFunctional annotation of rare structural variation in the human brain10.1038/s41467-020-16736-12041-1723https://doaj.org/article/d5da8027a19c4487875263a8dbf5c81b2020-06-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-16736-1https://doaj.org/toc/2041-1723Structural variants (SVs) contribute to the genetic architecture of many brain-related disorders. Here, the authors integrate SV calls from genome sequencing (n = 755) with RNA-seq data (n = 629) from post-mortem dorsal lateral prefrontal cortex to annotate the gene regulatory effects of SVs in the human brain and their potential to contribute to disease.Lide HanXuefang ZhaoMary Lauren BentonThaneer PerumalRyan L. CollinsGabriel E. HoffmanJessica S. JohnsonLaura SloofmanHarold Z. WangMatthew R. StoneCommonMind ConsortiumKristen J. BrennandHarrison BrandSolveig K. SiebertsStefano MarencoMette A. PetersBarbara K. LipskaPanos RoussosJohn A. CapraMichael TalkowskiDouglas M. RuderferNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-13 (2020) |
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DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q Lide Han Xuefang Zhao Mary Lauren Benton Thaneer Perumal Ryan L. Collins Gabriel E. Hoffman Jessica S. Johnson Laura Sloofman Harold Z. Wang Matthew R. Stone CommonMind Consortium Kristen J. Brennand Harrison Brand Solveig K. Sieberts Stefano Marenco Mette A. Peters Barbara K. Lipska Panos Roussos John A. Capra Michael Talkowski Douglas M. Ruderfer Functional annotation of rare structural variation in the human brain |
| description |
Structural variants (SVs) contribute to the genetic architecture of many brain-related disorders. Here, the authors integrate SV calls from genome sequencing (n = 755) with RNA-seq data (n = 629) from post-mortem dorsal lateral prefrontal cortex to annotate the gene regulatory effects of SVs in the human brain and their potential to contribute to disease. |
| format |
article |
| author |
Lide Han Xuefang Zhao Mary Lauren Benton Thaneer Perumal Ryan L. Collins Gabriel E. Hoffman Jessica S. Johnson Laura Sloofman Harold Z. Wang Matthew R. Stone CommonMind Consortium Kristen J. Brennand Harrison Brand Solveig K. Sieberts Stefano Marenco Mette A. Peters Barbara K. Lipska Panos Roussos John A. Capra Michael Talkowski Douglas M. Ruderfer |
| author_facet |
Lide Han Xuefang Zhao Mary Lauren Benton Thaneer Perumal Ryan L. Collins Gabriel E. Hoffman Jessica S. Johnson Laura Sloofman Harold Z. Wang Matthew R. Stone CommonMind Consortium Kristen J. Brennand Harrison Brand Solveig K. Sieberts Stefano Marenco Mette A. Peters Barbara K. Lipska Panos Roussos John A. Capra Michael Talkowski Douglas M. Ruderfer |
| author_sort |
Lide Han |
| title |
Functional annotation of rare structural variation in the human brain |
| title_short |
Functional annotation of rare structural variation in the human brain |
| title_full |
Functional annotation of rare structural variation in the human brain |
| title_fullStr |
Functional annotation of rare structural variation in the human brain |
| title_full_unstemmed |
Functional annotation of rare structural variation in the human brain |
| title_sort |
functional annotation of rare structural variation in the human brain |
| publisher |
Nature Portfolio |
| publishDate |
2020 |
| url |
https://doaj.org/article/d5da8027a19c4487875263a8dbf5c81b |
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| _version_ |
1718379254941483008 |