Steffen Möller pushed to branch master at Debian Med / snpeff
Commits:
0b6a8a87 by Steffen Möller at 2021-03-30T16:01:25+00:00
Update control - extended description
- - - - -
1 changed file:
- debian/control
Changes:
=====================================
debian/control
=====================================
@@ -66,11 +66,29 @@ Architecture: all
Depends: ${java:Depends},
${misc:Depends},
libsnpeff-java (= ${binary:Version})
+Suggests: vcfanno
Description: genetic variant annotation and effect prediction toolbox - tool
+ "We are all different!" Geneticists agree to this old Monty Python joke..
+ 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.
+ This happens upon environmental factors, e.g. like UV light, but also
+ as random 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 "polgygenic" phenotype, is at the onset of drug development and
+ increasingly also for selecting individualize 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).
View it on GitLab:
https://salsa.debian.org/med-team/snpeff/-/commit/0b6a8a8782a44c45d3f70339102b2e67130ef3e4
--
View it on GitLab:
https://salsa.debian.org/med-team/snpeff/-/commit/0b6a8a8782a44c45d3f70339102b2e67130ef3e4
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