SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms

被引：151

作者：

Chelala, Claude ^{[1
]}

Khan, Arshad ^{[1
]}

Lemoine, Nicholas R. ^{[1
]}

机构：

[1] Barts & London Sch Med QMUL, Inst Canc & CR UK Clin Ctr, Ctr Mol Oncol & Imaging, London EC1M 6BQ, England

来源：

BIOINFORMATICS | 2009年 / 25卷 / 05期

关键词：

GENOME-WIDE ASSOCIATION; COPY-NUMBER VARIATION; BREAST-CANCER; LINKAGE DISEQUILIBRIUM; STRUCTURAL VARIATION; MICRORNA TARGETS; GENE; EXPRESSION; SNPS; PREDICTION;

D O I：

10.1093/bioinformatics/btn653

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

Motivation: Design a new computational tool allowing scientists to functionally annotate newly discovered and public domain single nucleotide polymorphisms in order to help in prioritizing targets in further disease studies and large-scale genotyping projects. Summary: SNPnexus database provides functional annotation for both novel and public SNPs. Possible effects on the transcriptome and proteome levels are characterized and reported from five major annotation systems providing the most extensive information on alternative splicing. Additional information on HapMap genotype and allele frequency, overlaps with potential regulatory elements or structural variations as well as related genetic diseases can be also retrieved. The SNPnexus database has a user-friendly web interface, providing single or batch query options using SNP identifiers from dbSNP as well as genomic location on clones, contigs or chromosomes. Therefore, SNPnexus is the only database currently providing a complete set of functional annotations of SNPs in public databases and newly detected from sequencing projects. Hence, we describe SNPnexus, provide details of the query options, the annotation categories as well as biological examples of use.

引用

页码：655 / 661

页数：7

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