Madhumitha Bathmakumar
@madhumithabathmakuma
Clinical Variant Scientist specializing in germline and somatic variant interpretation for diagnostic settings.
IndiaWhat I'm looking for
I am a results-driven Clinical Variant Scientist with extensive experience interpreting germline and somatic variants across rare disease, prenatal, cardiac, renal, and oncology panels. I have applied ACMG/AMP and ClinGen guidelines within CLIA-aligned workflows, led projects for U.S.-based diagnostic laboratories, and mentored junior analysts to improve quality and throughput.
My work includes preparing hundreds of clinical cases, conducting rare disease case preparations, and contributing as a ClinGen Expert Panel biocurator. I am committed to continuous learning—completing certifications in GenAI and Long Read Sequencing—and to clear scientific communication, process optimization, and cross-functional collaboration to deliver clinically actionable genomic insights.
Experience
Work history, roles, and key accomplishments
Clinical Variant Scientist
Zifo RnD
Apr 2025 - Present (7 months)
Interpreted 1,000+ clinical cases across germline, rare disease, prenatal, cardiac, renal, and oncology panels and served as project lead for a U.S. CLIA-certified diagnostic laboratory, improving case throughput and report quality. Trained and mentored junior analysts and completed certifications in GenAI and Long Read Sequencing.
Associate Variant Analyst
Zifo Genomics Research Institute
Jul 2023 - Mar 2025 (1 year 8 months)
Performed SNV and CNV interpretation using ACMG/AMP and ClinGen guidelines, supervised 8–10 interns, and developed process documents and checklists to standardize variant curation for WES and panel cases. Served as ClinGen LCA/eoRD VCEP biocurator and led scientific content development.
Education
Degrees, certifications, and relevant coursework
VUVIT University
Master of Science, Applied Microbiology
2021 - 2023
Completed a Master of Science in Applied Microbiology focusing on advanced microbiological techniques and research-based coursework.
Ethiraj College for Women
Bachelor of Science, Microbiology
2018 - 2021
Completed a Bachelor of Science in Microbiology through Ethiraj College for Women affiliated to the University of Madras.
Tech stack
Software and tools used professionally
Availability
Location
IndiaAuthorized to work in
Job categories
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