2015 ASHG: Challenges in variant annotation for clinical genomic testing

Generating accurate HGVS nomenclature is dependent on successful execution of the following:

a) Identifying the correct transcript version
b) Left or right justification of the sequence variant
c) Translating the annotation from transcript to protein

Errors in any of these steps can lead to ambiguous and/or incorrect HGVS representation.

 

 

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2017-10-02T22:56:20+00:00