snpeff - 5.1+d+dfsg-3 main

"We are all different!" Geneticists agree to this.
Even twins, who are said to be identical are on a molecular
level only "mostly" identical. And even within the exact same individual,
healthy cells acquire mutations such that we are all genetic mosaics.
Changes to individual cells may be induced by environmental factors,
e.g. like UV light, or happen sporadically as mishaps during cellular
divisions.
.
Because there are so many genetic differences, and most have just no
particular meaning for the development of a phenotype, i.e. most have no
effect, it would be nice to have heuristics implemented that direct the
researcher towards single-nucleotide polymorphisms (SNPs) that are most
likely to be relevant. This identifies the gene that causes or contributes
to, e.g, an illness, and possibly also genes that are affected by that
change. Such mechanistic understanding of a disease, particularly when
multiple genes and multiple genetic variants are contributing to the
then "polygenic" phenotype, is at the onset of drug development and
increasingly also for selecting individualized therapies in the clinic.
.
SnpEff is a variant annotation and effect prediction tool. It annotates
and predicts the effects of variants on genes (such as amino acid
changes).
The inputs are predicted variants (SNPs, insertions, deletions and
MNPs). The input file is usually obtained as a result of a sequencing
experiment, and it is usually in variant call format (VCF).
.
SnpEff analyzes the input variants. It annotates the variants and
calculates the effects they produce on known genes (e.g. amino acid
changes).
.
This package contains the command line tool.