TrialServe uses the Human Genome Variation Society (HGVS) nomenclature
to
express genetic variants.
As well as recording individual genetic variants we record the exon test
coverage in a variant map.
Using a combination of HGVS and a variant map we use our Spliceosome
simulator to predict
errors at the DNA, RNA and Protein levels.
You can check genetic variants syntax using
our on-line software.
The
software uses JavaCC to parse the
Variant using a grammar. |