New Variation Services for Normalizing, Remapping, and Annotating Variants
Date: Wednesday, February 6, 2019 Time: 12:00 PM - 12:30 PM EST Registration: https://bit.ly/2McN7QP
In this webinar you will learn how to use a new set of NCBI variation services (https://www.ncbi.nlm.nih.gov/variation/services/) that rely on a variant data model called SPDI (Sequence Position Deletion Insertion). These services and data model allow you to inter-convert, map and disambiguate variants in standard formats (RefSNP accessions, HGVS and VCF). Unlike many current variant notation systems, SPDI provides unambiguous, machine-readable definitions of variants. SPDI not only powers SNP build and mapping procedures at NCBI but also our variant sensors that are active in the global search and ClinVar. These services and notation system provide valuable new tools for people who work with sequence variants.