Molecular Genetics Analysis Assistant-QC

Baylor Genetics

21h

About The Position

Baylor Genetics, one of the world leaders in clinical molecular genetics, is excited to announce an opening in the Clinical Genomics Interpretation (CGI) division. The Sr. Molecular Genetics Analysis Assistant 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.

Requirements

Bachelor of Science (BS) in Genetics or related field.
7+ years of relevant experience
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.
Excellence in reading/writing medical language.
Proficiency in Microsoft Office (Excel, Word, PowerPoint, Outlook).

Nice To Haves

Master’s, PhD, MD, and/or MB(ASCP).
Experience in pharmacogenomics (PGx) variant calling, including complex loci such as CYP2D6, is strongly preferred
Track record of high quality, leading projects toward goals, deep understanding of complex variant analysis concepts, broad range of expertise, training coworkers, demonstration of workflow process improvement
experience in bioinformatics analysis, variant effect prediction algorithms, and scripting languages
Familiarity with American College of Medical Genetics (ACMG) variant curation guidelines.
Knowledge of copy number variation (CNV) concepts.
Knowledge of genomic variation and its correlation with human disease.

Responsibilities

quality control review of clinical samples and NGS data
analyzing clinical genomics data, including variant identity using HGVS standards, variant checking in IGV, trinucleotide repeat analysis, and ordering confirmation testing
case tracking and turnaround time monitoring

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