bioinformatics cancer genetic genome genomic life sciences protein structural variation transcriptomics variant annotation vcf whole exome sequencing whole genome sequencing
SnpEff is a variant annotation and effect prediction tool that annotates and predicts the effects of genetic variants on genes and proteins (such as amino acid changes). It supports over 38,000 genomes and provides comprehensive genomic databases for variant annotation. The databases include reference genomes, gene annotations, protein sequences, and regulatory elements from trusted sources like ENSEMBL, RefSeq, and UCSC. SnpSift complements SnpEff by providing tools to annotate genomic variants using databases, filter large genomic datasets, and manipulate annotated variants. Together, these tools provide a complete solution for genomic variant analysis, supporting research in human genetics, cancer genomics, pharmacogenomics, and model organism studies.
Monthly
https://pcingola.github.io/SnpEff/
See all datasets managed by Pablo Cingolani.
Pablo Cingolani http://www.linkedin.com/in/pablocingolani
SnpEff & SnpSift Genomic Variant Annotation Databases was accessed on DATE from https://registry.opendata.aws/snpeff.
arn:aws:s3:::snpeff-publicus-east-2aws s3 ls --no-sign-request s3://snpeff-public/