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プロフィール詳細

プロジェクトを作成

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Swati T.に依頼

Canada

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

プロフィール概要

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.

専門分野

サービス

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

職務経験

Advisory Board - consultant

Nala Genetics

6月 2025 - 現在

Products Manager

SOPHiA Genetics

4月 2022 - 4月 2025

Product Manager

Sophia Genetics (Switzerland)

4月 2022 - 4月 2025

Senior Research Fellow

National University of Singapore

10月 2019 - 3月 2022

Research Fellow

National University of Singapore

7月 2015 - 10月 2019

学歴

PhD (Pathology Microbiology Immunology)

University of South Carolina

8月 2009 - 12月 2013

認定資格

認定資格の詳細は未入力です。

出版物

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 .