Genetic Variant Scientist
Boston Genetics
Total years of experience :5 years, 1 Months
I work in a Laboratory for Expanded Carrier Screen. My responsibilities include processing, analyzing, and interpreting gene variants identified through clinical testing. So far I’ve classified 4000+ gene variants.
• Critically read medical genetics literature and review data collected from internal and external databases for the purposes of variant classification.
• Interpret variant-specific information, and provide detailed summaries of variant classification rationale.
• Write, review and update reports, as well as collaborate with scientists and clinicians to refine the content of the reports.
Project title: Characterization of human ribonucleotide reductase mutant alleles in the budding yeast system.
• Complemented yeast strains with mutant alleles from human cancer databases.
• Performed ribonucleotide reductase mutagenesis screen to characterize mutations by using frameshift mutator reporter lys2-10A in budding yeast.
• Analyzed mutator phenotype, and identified mutations with potentially increased cancer predisposition.
Project title: Mutation analysis in the candidate Moebius syndrome genes: PLXND1 and REV3L.
• Performed whole-exome Sanger sequencing of candidate genes in 30 patients with Moebius syndrome and their parents.
• Identified candidate rare or de novo variants, and investigated the possibility of their pathogenic potency.
Project title: Molecular genetic characterization of Salmo obtusirostris population in Bregava river.
• Determined RFLP mtDNA haplotypes and nuclear microsatellite loci in a wild population of Salmo obtusirostris.
• Performed standard population genetics analysis (bottleneck detection and genetic differentiation) and evaluated potential use in the conservation of the species.
Occupational Subjects: Methods and Techniques in Molecular Biology, Cytogenetic Toxicology, Pharmacogenetics
Occupational Subjects: Bioinformatics, Genomics, Biology of Cancer, Human Genetics, Forensic Genetics
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