SV2: accurate structural variation genotyping and de novo mutation detection from whole genomes-Reference-Cited by-同舟云学术

SV2: accurate structural variation genotyping and de novo mutation detection from whole genomes

Published:2017-12-29 Issue:10 Volume:34 Page:1774-1777
ISSN:1367-4803
Container-title:Bioinformatics
language:en
Short-container-title:

Author:

Antaki Danny¹²³⁴^ORCID,Brandler William M¹²³,Sebat Jonathan¹²³

Affiliation:

1. Beyster Center for Genomics of Psychiatric Diseases, University of California San Diego, La Jolla, CA, USA

2. Department of Psychiatry, University of California San Diego, La Jolla, CA, USA

3. Department of Cellular and Molecular Medicine and Pediatrics, University of California San Diego, La Jolla, CA, USA

4. Biomedical Sciences Graduate Program, University of California San Diego, La Jolla, CA, USA

Funder

National Institutes of Health

NIH

Amazon Web Services

Publisher

Oxford University Press (OUP)

Subject

Computational Mathematics,Computational Theory and Mathematics,Computer Science Applications,Molecular Biology,Biochemistry,Statistics and Probability

Link

http://academic.oup.com/bioinformatics/article-pdf/34/10/1774/25118212/btx813.pdf

Reference11 articles.

1. Somatic copy number mosaicism in human skin revealed by induced pluripotent stem cells;Abyzov;Nature,2012

2. Frequency and complexity of de novo structural mutation in autism;Brandler;Am J Hum Genet,2016

3. Paternally inherited noncoding structural variants contribute to autism;Brandler;bioRxiv,2017

4. A haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysis;Chen;Bioinformatics,2015

5. Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications;Chen;Bioinformatics,2015

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