Wes Goar and Alex Wagner are authoring a publication on the VRS normalization service being used in the gk-pilot for clvic and clinvar. This publication aims to demonstrate the types of variant representations that are not yet handled by the VRS normalizer (or VRS) and it needs to assess which categories of these "non-normalizable" variants have the most amount of evidence/knowledge in the civic and clinvar database so that it may be used to drive the prioritization of variant types that should be addressed by the GKS VRS development work.
Goal:
Gather the set of Text variants that come out of the ClinVar variant normalization pipeline and breakdown the category of reasons why these text variants did not translate to VRS alleles, cnvs, haplotypes, and genotypes. Then develop a list of the counts per category.
With the breakdown of categories of reasons, then determine the quantity of SCVs (or evidence records) in ClinVar related to these variant types so as to help convey importance in terms of resolve the VRS variation type plan (or a normalization policy).
Wes Goar and Alex Wagner are authoring a publication on the VRS normalization service being used in the gk-pilot for clvic and clinvar. This publication aims to demonstrate the types of variant representations that are not yet handled by the VRS normalizer (or VRS) and it needs to assess which categories of these "non-normalizable" variants have the most amount of evidence/knowledge in the civic and clinvar database so that it may be used to drive the prioritization of variant types that should be addressed by the GKS VRS development work.
Goal: Gather the set of Text variants that come out of the ClinVar variant normalization pipeline and breakdown the category of reasons why these text variants did not translate to VRS alleles, cnvs, haplotypes, and genotypes. Then develop a list of the counts per category. With the breakdown of categories of reasons, then determine the quantity of SCVs (or evidence records) in ClinVar related to these variant types so as to help convey importance in terms of resolve the VRS variation type plan (or a normalization policy).