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Profile Details

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Hire Swati T.

Canada

USD 100 /hr

Clinical Genomics Scientist & Product Strategist | WGS Variant Interpretation, ACMG/AMP, Rare Disease & Oncology

Profile Summary

I'm a clinical genomics scientist turned commercial strategist with 15+ years of experience spanning bench-level research and global product strategy. My background includes rare disease and cancer variant curation (Duchenne Muscular Dystrophy, Retinoblastoma, Moyamoya Disease, pediatric developmental delay, oropharyngeal cancer, and inherited cardiac conditions via the SG10K study) at the National University of Singapore/NUHS and NTU/LKCMedicine, followed by product and commercial strategy roles at SOPHiA GENETICS and Nala Genetics. At SOPHiA GENETICS, I led a rare disease WGS interpretation platform from inception to MVP, working directly with ACMG/AMP classification frameworks and clinical variant interpretation platforms including Emedgene-class tools. I offer consulting support in WGS variant analysis and classification, clinical genomics workflow design, and product/commercial strategy for genomics and diagnostics companies. I hold a Ph.D. in Biomedical Science (Genomics & Oncology) from the University of South Carolina School of Medicine and have authored five peer-reviewed publications in journals including Circulation: Genomic and Precision Medicine.

Subject Matter Expertise

Services

Writing
Research
Consulting
Product Development

Writing Medical Writing, Technical Writing, Business & Legal Writing

Research Market Research, User Research, Fact Checking, Scientific and Technical Research

Consulting Business Strategy Consulting, Go-to-Market Strategy Consulting, Scientific and Technical Consulting

Product Development Product Evaluation, Product Launch Support

Work Experience

Advisory Board - consultant

Nala Genetics

June 2025 - Present

Products Manager

SOPHiA Genetics

April 2022 - April 2025

Product Manager

Sophia Genetics (Switzerland)

April 2022 - April 2025

Senior Research Fellow

National University of Singapore

October 2019 - March 2022

Research Fellow

National University of Singapore

July 2015 - October 2019

Education

PhD (Pathology Microbiology Immunology)

University of South Carolina

August 2009 - December 2013

Certifications

Certification details not provided.

Publications

JOURNAL ARTICLE

Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort <head> <META HTTP-EQUIV="Refresh" CONTENT="0;URL=/servlet/useragent"> </head> . Circulation: Genomic and Precision Medicine.

(2020). The orphan nuclear receptor NR0B2 could be a novel susceptibility locus associated with microsatellite-stable, APC mutation-negative early-onset colorectal carcinomas with metabolic manifestation . Genes, chromosomes & cancer.

(2020). Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management . Archives of disease in childhood.

(2019). Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy . American journal of medical genetics. Part C, Seminars in medical genetics.

(2019). Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing . European journal of human genetics : EJHG.

(2017). Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling . PloS one.

(2015). Human papillomavirus status and gene expression profiles of oropharyngeal and oral cancers from European American and African American patients . Head & neck.

(2014). The translational significance of epithelial-mesenchymal transition in head and neck cancer . Clinical and translational medicine.

BOOK CHAPTER

Yiliu Y. et al. (2019) Resolving the Diagnostic Odyssey of a Patient with an Undefined Neuromuscular Disorder Using Massively Parallel Sequencing Approaches. In: Guo H., Ren H., Bandla A. (eds) IRC-SET 2018. Springer, Singapore. https://doi.org/10.1007/978-981-32-9828-6_22 .

(2015). Racial Disparities in Oropharyngeal Cancer . Human Papillomavirus (HPV)-Associated Oropharyngeal Cancer.

CONFERENCE POSTER

Tomar S, Sethi R, Sundar G, Quah TC, Quah BL, Lai PS. Novel constitutional and somatic RB1 mutations underlying retinal cancers in addition to TNFα, KIF13A and MGMT alterations. Ann Transl Med 2017;5(Suppl 2):AB109. doi: 10.21037/atm.2017.s109 .