Develop, implement, maintain, and optimize reproducible bioinformatics pipelines for human genomic data analysis, including whole-exome sequencing (WES), whole-genome sequencing (WGS), targeted gene panels, and long-read sequencing data.

Perform sequence quality assessment, read preprocessing, alignment, variant calling, normalization, annotation, filtration, and downstream analysis using established bioinformatics tools and workflows.

Design, automate, validate, and optimize end-to-end genomic analysis platforms and computational workflows to improve efficiency, reproducibility, and scalability.

Analyse, interpret, classify, and prioritize genetic variants according to ACMG/AMP guidelines and current Clin-Gen recommendations by integrating sequencing quality metrics, inheritance patterns, segregation analysis, phenotype correlation, population frequency, and published clinical evidence...