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Geneticists

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.

 
Variant
Example