Kaviar: an accessible system for testing SNV novelty

被引：166

作者：

Glusman, Gustavo ^{[1
]}

Caballero, Juan ^{[1
]}

Mauldin, Denise E. ^{[1
]}

Hood, Leroy ^{[1
]}

Roach, Jared C. ^{[1
]}

机构：

[1] Inst Syst Biol, Seattle, WA 98109 USA

来源：

BIOINFORMATICS | 2011年 / 27卷 / 22期

基金：

美国国家卫生研究院;

关键词：

GENOME; SEQUENCE; FORMAT; DBSNP;

D O I：

10.1093/bioinformatics/btr540

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

With the rapidly expanding availability of data from personal genomes, exomes and transcriptomes, medical researchers will frequently need to test whether observed genomic variants are novel or known. This task requires downloading and handling large and diverse datasets from a variety of sources, and processing them with bioinformatics tools and pipelines. Alternatively, researchers can upload data to online tools, which may conflict with privacy requirements. We present here Kaviar, a tool that greatly simplifies the assessment of novel variants. Kaviar includes: (i) an integrated and growing database of genomic variation from diverse sources, including over 55 million variants from personal genomes, family genomes, transcriptomes, SNV databases and population surveys; and (ii) software for querying the database efficiently.

引用

页码：3216 / 3217

页数：2

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