freebsd-ports/biology/snpeff/pkg-descr
Jason W. Bacon 5164d38ee5 biology/snpeff: Genetic variant annotation and effect prediction toolbox
Genetic variant annotation and functional effect prediction toolbox. It
annotates and predicts the effects of genetic variants on genes and proteins
(such as amino acid changes).
2021-04-18 13:46:29 -05:00

14 lines
414 B
Text

Genetic variant annotation and functional effect prediction toolbox. It
annotates and predicts the effects of genetic variants on genes and proteins
(such as amino acid changes).
Features:
Supports over 38,000 genomes
Standard ANN annotation format
Cancer variants analysis
GATK compatible (-o gatk)
HGVS notation
Sequence Ontology standardized terms
WWW: http://snpeff.sourceforge.net/