Darshana R

Motivated and detail-oriented Genome Analyst Trainee with proven expertise in genomic data analysis, bioinformatics tools, and management of large-scale datasets. Skilled in analyzing raw genomic data, identifying cancer-related mutations, copy number variations, and gene fusions to support precision oncology initiatives. Proficient in Linux shell scripting and advanced quality control methodologies.

Demonstrates strong collaboration with cross-functional teams, meticulous attention to detail, and adherence to industry standards, delivering high-quality data reporting and contributing meaningfully to personalized treatment strategies in precision medicine.

Genome Analyst Trainee at 4Basecare Precision Health Pvt Ltd (2024-07 – Present)

End-to-end analysis of processed NGS data from FFPE tumor tissue for precision oncology and cancer genomics.

• Performed end-to-end analysis of processed NGS data from FFPE tumor tissue, achieving >350X mean coverage and >1000X total depth for a 1212-gene comprehensive oncology panel.
• Executed somatic variant calling and curation across SNVs, InDels, CNVs, splice variants, fusions, TMB, and MSI, followed by rigorous QC and allele burden assessment per variant.
• Applied standardized clinical interpretation frameworks (ACMG/AMP, ASCO, AMP, NCCN, ESMO, FDA) to tier and report clinically relevant alterations and VUS with literature-backed rationale.
• Conducted database-driven annotation and population filtering using ClinVar, COSMIC, dbSNP, 1000 Genomes, ExAC/gnomAD, and in-silico predictors (CADD, SIFT, PolyPhen-2, MutationTaster).
• Demonstrated strong attention to detail in all aspects of NGS data analysis, QC processes, and result validation for enhanced diagnostic accuracy.

Bioinformatics Intern - Department of Genome Informatics at Genotypic Technology Pvt Ltd (2024-01 – 2024-06)

Conducted targeted and whole-genome metagenomic analysis using Next Generation Sequencing technologies with focus on bioinformatics data processing and optimization.

• Conducted targeted and whole-genome metagenomic analysis using Next Generation Sequencing (NGS) technologies, enhancing the scope and accuracy of genetic research projects.
• Performed comprehensive bioinformatics analyses on metagenomic datasets, including quality control, taxonomy classification, functional annotation, and diversity metrics computation, ensuring high-quality and reliable data outputs.
• Optimised Linux shell scripts, leading to a 25% increase in data processing efficiency, and streamlining bioinformatics workflows.

Master of Science in Bioinformatics – Manipal School of Life Sciences

Bachelor of Science in Chemistry, Zoology, Microbiology – Mount Carmel College