SV-plaudit: A cloud-based framework for manually curating thousands of structural variants-Reference-Cited by-同舟云学术

SV-plaudit: A cloud-based framework for manually curating thousands of structural variants

Published:2018-05-31 Issue:7 Volume:7 Page:
ISSN:2047-217X
Container-title:GigaScience
language:en
Short-container-title:

Author:

Belyeu Jonathan R¹²,Nicholas Thomas J¹²,Pedersen Brent S¹²,Sasani Thomas A¹²,Havrilla James M¹²,Kravitz Stephanie N¹²,Conway Megan E¹,Lohman Brian K¹²,Quinlan Aaron R¹²³,Layer Ryan M¹²^ORCID

Affiliation:

1. Department of Human Genetics, University of Utah, 15 S 2030 E, Salt Lake City, UT, USA

2. USTAR Center for Genetic Discovery, University of Utah, Salt Lake City, UT, USA

3. Department of Biomedical Informatics, University of Utah, Salt Lake City, UT, USA

Funder

US National Human Genome Research Institute

US National Cancer Institute

Publisher

Oxford University Press (OUP)

Subject

Computer Science Applications,Health Informatics

Link

http://academic.oup.com/gigascience/article-pdf/7/7/giy064/25116850/giy064.pdf

Reference28 articles.

1. An integrated map of structural variation in 2,504 human genomes;Sudmant;Nature,2015

2. Global variation in copy number in the human genome;Redon;Nature,2006

3. A genome-wide survey of structural variation between human and chimpanzee;Newman;Genome Res,2005

4. Primate segmental duplications: crucibles of evolution, diversity and disease;Bailey;Nat Rev Genet,2006

5. Structural variants caused by Alu insertions are associated with risks for many human diseases;Payer;Proc Natl Acad Sci U S A,2017

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