SNPnotes - initial release
Software for variant annotation integrating clinical, genome-wide association studies, and tissue-specific genome regulatory information.
When provided with a VCF file, will annotate SNPs with the following information (resources listed in parentheses):
* clinical significance (ClinVar)
* tissue-specific expression modulation (GTEx) for user-specific human tissues
* known genetic-disease associations (NHGRI-EBI GWAS catalogue) for user-specified disease categories
* SNP locations (dbSNP)
Provides as an output a single text file with variant annotation.