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Molecular Genetics Analysis Assistant
Baylor GeneticsSr. Molecular Genetics Analysis Assistant at Baylor Genetics performing quality control and analyzing genomic data.
About the role
Key responsibilities & impact- Performs quality control, reviews genetic sequencing data to determine variant identity based on HGVS standards, orders variant confirmations, and monitors the status of clinical cases.
- 25% : quality control review of clinical samples and NGS data
- 50% : analyzing clinical genomics data, including variant identity using HGVS standards, variant checking in IGV, trinucleotide repeat analysis, and ordering confirmation testing
- 25% : case tracking and turnaround time monitoring.
Requirements
What you’ll need- Bachelor of Science (BS) in Genetics or related field.
- 7+ years of relevant experience
- Experience in pharmacogenomics (PGx) variant calling, including complex loci such as CYP2D6, is strongly preferred.
- Familiarity with HGVS variant nomenclature standards is required.
- Expertise in concepts of clinical medicine, genetics, genomics, or molecular biology.
- Experience in data quality assessment and communicating genetic details effectively.
- Proficiency in Microsoft Office (Excel, Word, PowerPoint, Outlook).
- Desired: experience in bioinformatics analysis, variant effect prediction algorithms, and scripting languages.
- Desired: Familiarity with American College of Medical Genetics (ACMG) variant curation guidelines.
- Desired: Knowledge of copy number variation (CNV) concepts.
- Desired: Knowledge of genomic variation and its correlation with human disease.
Benefits
Comp & perks- Equal Opportunity Employer
ATS Keywords
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Hard Skills & Tools
Genetic Sequencing Data AnalysisVariant Identity DeterminationTrinucleotide Repeat AnalysisVariant Effect Prediction AlgorithmsBioinformatics Analysis
Soft Skills
Effective Communication