Characterization of Germline variants

Generic human DNA variant annotation pipeline

population structural variant calling with smoove

A local API-based biological engine that uses Tracy for sequence alignment and VEP for variant annotation. Built with Python for computational biology and bioinformatics analysis.

Variant annotation of vcf file using exac and vep

Repository for the I-VEP BCI paradigm

Automated variant annotation pipeline, and curated OMIM and ClinVar SNV datasets, developed by Martina Debnath.

Automated variant interpretation pipeline using VEP, ANNOVAR, and LLaMA3.

Python script providing summary of CADD scores conditioned on several options

An agentic AI pipeline for annotating genetic variants, linking them to disease evidence, and generating structured interpretation reports using biomedical APIs and LLM reasoning.