ST
Swati Tomar
Sophia Genetics (Switzerland), National University of Singapore, University of South Carolina
0000-0001-5543-6803
Employment
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Sophia Genetics (Switzerland) Product Manager2022 - 2025
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National University of Singapore Senior Research Fellow2019 - 2022
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National University of Singapore Research Fellow2015 - 2019
Education
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University of South Carolina PhD2009 - 2013
Projects & Funding
Projects & funding information is unavailable.
Publications (11)
- Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort Save
- 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. Save
- Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management. Save
- Resolving the Diagnostic Odyssey of a Patient with an Undefined Neuromuscular Disorder Using Massively Parallel Sequencing Approaches Save
- Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy. Save
- Specific phenotype semantics facilitate gene prioritization in clinical exome sequencing. Save
- Novel constitutional and somatic RB1 mutations underlying retinal cancers in addition to TNFα, KIF13A and MGMT alterations Save
- Mutation spectrum of RB1 mutations in retinoblastoma cases from Singapore with implications for genetic management and counselling. Save
- Human papillomavirus status and gene expression profiles of oropharyngeal and oral cancers from European American and African American patients. Save
- Racial Disparities in Oropharyngeal Cancer Save