Informatics - Lead the bioinformatics team and worked on 1500+ cancer patient sequencing data to drive the IndieGene Cancer Panel. Identified the data mining tools/databases and developed robust Pipeline for NGS data to meet project requirements. Clinical reporting - Build the team of genetic counsellors and prepared precision oncology reports using ACMG/AMP/ESMO/NCCN/FDA guidelines. The team is also involved pre and post test genetic counselling and in scientific discussion. Research and Development- Evaluated and compared different software (Agilent SureCall, IonTorrent, Oncomine, Qiagen) and reports from different providers. Building in-house software which will help in gathering information on population frequency, Insilico prediction tools, therapeutic implication (Clinical trial/FDA/NCCN) on the variant, followed by variant filtration and prioritisation and generation clinical reports.

Development and execution of Bioinformatics analysis pipeline for Whole Exome sequencing for cancer NGS variant interpretations and prioritization by using various resources, tools and databases. Exposed to Thermo-Ion Reporter and Agilent SureCall software for Variant detection in the data.

Analysis of Next Generation Sequencing data (Whole/Clinical exome) and Chromosomal Microarray in patients with rare Mendelian diseases and correlating the results with the clinical phenotype of the patients.

Experienced in analyzing and interpretation of Next Generation Sequencing data of Transcriptomics, Denovo - Whole Genome Sequencing and Exome Sequencing.Proficient in working with awk shell scripting, R programming, Python and Excel for data analysis.Downstream analysis of Transcriptomic data including Qualitative & Quantitative Gene Expression Profiling, Differential Gene Expression Profiling, Gene Ontology and Pathway AnalysisDownstream analysis of WGS data including gene prediction and Comparative Genome Analysis.

Cytogenetic analysis from peripheral blood and bone marrow sample for diagnosis of chromosomal abnormalities.Experienced in processing and analysis of postnatal and prenatal samples for chromosomal microarray.