Molecular Genetics Analysis Assistant-QC

Summary: 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. Duties and Responsibilities: 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 Qualifications/Experience Degree: Bachelor of Science (BS) in Genetics or related field. Desired: Master’s, PhD, MD, and/or MB(ASCP). 7+ years of relevant experience 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 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). 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. Competencies: Quality Assurance, Analytical, Problem Solving, Technical Skills, Interpersonal Skills, Oral and Written Communication, Teamwork, Organizational Support, Safety and Security, Dependability, Innovation, Adaptability. PHYSICAL DEMANDS AND WORK ENVIRONMENT: Frequently required to sit Frequently required to stand Frequently required to utilize hand and finger dexterity Frequently required to talk or hear Frequently required to utilize visual acuity to operate equipment, read technical information, and/or use a keyboard EEO Statement: Baylor Genetics is proud to be an equal opportunity employer dedicated to building an inclusive and diverse workforce. We do not discriminate based on race, religion, color, national origin, sex, sexual orientation, age, gender identity, veteran status, disability, genetic information, pregnancy, childbirth, or related medical conditions, or any other status protected under applicable federal, state, or local law.