期刊
BIOINFORMATICS
卷 27, 期 14, 页码 1998-2000出版社
OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btr317
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资金
- Bill & Melinda Gates Foundation [157412]
- National Institute of Allergy and Infectious Diseases Center for HIV/AIDS Vaccine Immunology [AI067854]
- National Institute of Neurological Disorders and Stroke [RC2NS070344]
- National Institute of Mental Health [RC2MH089915]
Here we present Sequence Variant Analyzer (SVA), a software tool that assigns a predicted biological function to variants identified in next-generation sequencing studies and provides a browser to visualize the variants in their genomic contexts. SVA also provides for flexible interaction with software implementing variant association tests allowing users to consider both the bioinformatic annotation of identified variants and the strength of their associations with studied traits. We illustrate the annotation features of SVA using two simple examples of sequenced genomes that harbor Mendelian mutations.
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