CNVannotator: a comprehensive annotation server for copy number variation in the human genome.

摘要: Copy number variation (CNV) is one of the most prevalent genetic variations in genome, leading to an abnormal copies moderate large genomic regions. High-throughput technologies such as next-generation sequencing often identify thousands CNVs involved biological or pathological processes. Despite growing demand filter and classify by factors frequency population, features, function, surprisingly, no online web server for CNV annotations has been made available research community. Here, we present CNVannotator, a that accepts input set human positions user-friendly tabular format. CNVannotator can perform overlaps coordinates using various functional including list reported 356,817 common CNVs, 181,261 disease well as, 140,342 SNPs from genome-wide association studies. In addition, incorporates 2,211,468 ENCODE regulatory elements, cytoband, segmental duplication, genome fragile site, pseudogene, promoter, enhancer, CpG island, methylation site. For cancer community users, apply filters retrieve subgroup pinpointed hundreds tumor suppressor genes oncogenes. total, 5,277,234 unique with features are generate output plain text format free download. summary, provide comprehensive resource CNVs. The annotated results along be accessed at http://bioinfo.mc.vanderbilt.edu/CNVannotator/.