Translating Human Readable Variation Descriptions to Unique Computable Variations with the Variation
Description:
Learn about translating human-readable variation descriptions into unique computable variations using the Variation Normalizer in this 11-minute conference talk from the 2022 Cancer Genomics Consortium Annual Meeting. Explore the CGC Technologist Award-winning presentation by Kori Kuzma, which focuses on improving the accuracy of cancer genomic testing and diagnosis. Gain insights into best practices for clinical cancer genomics and the importance of standardizing genetic variation data for better patient care and targeted therapies.
Translating Human Readable Variation Descriptions to Unique Computable Variations with the Variation Normalizer