Variant curation
SNP interpretation, effect and risk alleles, and clinical-significance annotation for PGx and NGx using dbSNP, ClinVar, PharmGKB and GWAS.
Bioinformatics · Genomics
Turning raw genomic data into clinically meaningful insight.
I'm Ashrin, a bioinformatician and variant curator at Neuberg Centre for Genomic Medicine. I interpret pharmacogenomic and nutrigenomic variants, validate genomic data files, and work across sequencing and analysis pipelines.
0Years in genomics
0Sequencing workflows
0Curation resources
0Domains: PGx & NGx
About
Medical biotechnology postgraduate who works across the full path from sample to report. I combine hands-on molecular biology with data interpretation, grounding every call in literature, GWAS evidence and clinical databases, and holding to strong ethical standards in genomic work.
Genomic data & pipelines
JSON generation and validation, FASTQ, BAM and VCF integrity checks, and scripted steps within data-processing pipelines.
Sequencing workflows
Library preparation for WGS, WTA and 16S rRNA, Sanger sequencing, and DNA/RNA quality assessment.
Experience
Sep 2024 – Present
Junior Variant Curator & Bioinformatician
Neuberg Centre for Genomic Medicine (NCGM), Ahmedabad
- Curate pharmacogenomics and nutrigenomics variants from published literature, dbSNP, ClinVar, PharmGKB and GWAS.
- Interpret SNP associations, identify effect and risk alleles, and annotate clinical significance by trait relevance.
- Maintain documentation, data analysis and reporting across the curation workflow.
NCGM
Bioinformatics & Genomic Data Analysis
Data handling and pipelines
- Generate, parse and validate JSON files for variant and curation data, with schema and field checks before downstream use.
- Validate and QC FASTQ, BAM and VCF files to confirm integrity and consistency before analysis.
- Work within bioinformatics pipelines, scripting repetitive annotation and curation steps.
- Annotate and prioritise variants using Ensembl VEP, ClinVar, gnomAD, ClinGen, CPIC and PharmVar.
NCGM
Molecular Biology & Sequencing
Research Intern → Curator
- Prepared libraries for WGS, whole-transcriptome analysis (WTA) and 16S rRNA sequencing.
- Performed Sanger sequencing: sample prep, cycle sequencing and capillary electrophoresis.
- Assessed DNA/RNA quantity and integrity with NanoDrop, Qubit and Agilent TapeStation.
Training
Bioinformatics Internship
Bversity, India
- Computational approaches for biotechnology, genomic research and proteomic research.
Skills & tools
Variant curation
SNP interpretationPharmacogenomicsNutrigenomicsGWAS evidenceLiterature review
Databases & resources
dbSNPClinVarPharmGKBgnomADVarSomeFranklinClinGenEnsembl VEPPharmVarCPIC
Data & bioinformatics
JSON generation & parsingJSON schema validationFASTQ / BAM / VCF validationPipeline data QCVariant annotation
Also working with
Linux / BashPythonBiopythonpandasR / BioconductorjqFastQCMultiQCBWASAMtoolsbcftoolsGATKPicardvcftoolsbedtoolsIGVBLASTNextflowSnakemakeGalaxyGitDockerCytoscapeSTRINGAutoDock VinaPyMOL
Laboratory
WGS / WTA / 16S library prepSanger sequencingNanoDropQubitTapeStationAnimal handling
Education & project
M.Sc. Medical Biotechnology
The Maharaja Sayajirao University of Baroda
2022 – 2024
B.Sc. Biotechnology
Charotar University of Science and Technology
2019 – 2022
Network Pharmacology of a Medicinal Herb
Academic project · April 2024
Screened herb compounds and explored potential disease effects through network pharmacology.
Let's connect
Interested in genomics, variant interpretation or bioinformatics collaboration? I'd be glad to hear from you.