wANNOVAR: annotating genetic variants for personal genomes via the web
作者： Xiao Chang , Kai Wang
DOI: 10.1136/JMEDGENET-2012-100918
关键词:
摘要: Background High-throughput DNA sequencing platforms have become widely available. As a result, personal genomes are increasingly being sequenced in research and clinical settings. However, the resulting massive amounts of variants data pose significant challenges to average biologists clinicians without bioinformatics skills. Methods results We developed web server called wANNOVAR address critical needs for functional annotation genetic from genomes. The provides simple intuitive interface help users determine significance variants. These include annotating single nucleotide insertions/deletions their effects on genes, reporting conservation levels (such as PhyloP GERP++ scores), calculating predicted importance scores SIFT PolyPhen retrieving allele frequencies public databases 1000 Genomes Project NHLBI-ESP 5400 exomes), implementing ‘variants reduction’ protocol identify subset potentially deleterious variants/genes. illustrated how can draw biological insights data, by analysing generated two Mendelian diseases. Conclusions conclude that will take advantage genome information expedite scientific discoveries. is available at , be continuously updated reflect latest information.
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