Variant Identification

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Discover genetic mutations that shape health and disease! This course provides an in-depth understanding of variant calling, annotation, and interpretation for genetic studies and precision medicine. You’ll explore single nucleotide polymorphisms (SNPs), insertions and deletions (indels), copy number variations (CNVs), and structural variants using cutting-edge bioinformatics tools.

What You will Learn

Process and analyze next-generation sequencing (NGS) data for variant identification.
Perform variant calling for SNPs, indels, CNVs, and structural variations.
Annotate and interpret genetic variants for clinical and research applications.
Conduct functional impact analysis of identified variants.
Generate automated reports for genetic insights.

Who Should Enroll

Geneticists, bioinformaticians, and researchers interested in human genomics and precision medicine.

Tools Covered

GATK & Samtools (Variant calling)
VEP & ANNOVAR (Variant annotation)
ClinVar & dbSNP (Variant interpretation)

Course Instructor

Dr. Neelima Chitturi

Dr. Neelima Chitturi is a distinguished bioinformatics expert with over 15 years of experience in transcriptomics, genomics, and computational biology. A Ph.D. holder from IIIT-Hyderabad and IBAB-Bangalore, she specializes in identifying genetic variants, analyzing microbiome data, and developing bioinformatics pipelines. As the founder of Bruhaspathi Institute of Biosciences (BIB), she is passionate about simplifying complex bioinformatics concepts and empowering students with practical, real-world skills. Her expertise spans clinical diagnostics, pharmacogenomics, and cancer genomics, making her a sought-after educator and researcher in the field.

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