Molecular Genetics Analysis Assistant

🔥 9 minutes ago

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Logo of Baylor Genetics

Baylor Genetics

501 - 1000 employees

Founded 1978

🧬 Biotechnology

🔬 Science

Biotechnology • Science

Baylor Genetics is a clinical genomics and precision diagnostics laboratory affiliated with Baylor College of Medicine that provides comprehensive genetic testing and interpretation services. The company offers whole genome and whole exome sequencing, chromosomal microarray analysis, mitochondrial testing, pharmacogenomics, and specialized assays, along with genetic counseling, provider support, and insurance/payment resources. Baylor Genetics supports healthcare providers, researchers, and families with AI-enhanced interpretation, multimodal data integration, and end-to-end clinical and laboratory services.

📋 Description

• 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

• 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

• Equal Opportunity Employer

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