Cylvia A J

I’m a genomics variant interpretation and annotation professional, focused on improving diagnosis, treatment, and prevention through evidence-based clinical genomics. I interpret germline SNVs, indels, and structural variants using ACMG/AMP guidelines by integrating population, computational, functional, and literature evidence.

In my work, I perform clinical genomic analysis of Whole Exome Sequencing (WES) and targeted gene panel datasets, helping identify and prioritize disease-associated genetic variants for clinical reporting. I consistently classify variants into Pathogenic, Likely Pathogenic, VUS, Likely Benign, and Benign categories, and I generate personalized genomic reports by analyzing NGS data using Geneyx Software while maintaining turn around times (TAT).

I also interpret clinically significant somatic variants and short tandem repeats (STRs), applying established oncology variant interpretation resources for clinically relevant reporting. I strengthen consistency and accuracy by leveraging ClinGen resources (including Gene-Disease Validity Classifications, Dosage Sensitivity Map, Variant Curation Expert Panel (VCEP) specifications, and the ClinGen Allele Registry) and using variant normalization with cross-referencing across databases and transcript versions.