dbscsnv-hg38

dbscsnv-hg38 0.0.1-1.1

dbscSNV is a specialized database designed to annotate single nucleotide variants (SNVs) within splicing consensus regions of the human genome, hosted at http://www.liulab.science/dbscsnv.html by the Liu Lab at the University of South Florida. It catalogs all potential splice-altering SNVs (scSNVs) located from -3 to +8 at the 5’ splice site and -12 to +2 at the 3’ splice site, providing functional annotations and two ensemble prediction scores (AdaBoost and Random Forest) to assess their likelihood of disrupting splicing. Updated to version 1.1 (April 12, 2015), it includes genomic positions for both hg19 and hg38 assemblies, available for download via BOX. Users can integrate dbscSNV with dbNSFP for querying, making it a valuable tool for annotating variants that may affect splicing in genetic studies. This resource is particularly useful for researchers prioritizing splice-altering variants in exome or genome sequencing data, supported by detailed documentation and a publication in Nucleic Acids Research (2014).