Molecular Genetics Analysis Assistant- WGS Clinical Indication

reputed company: reputed company, one of the world leaders in clinical molecular genetics, is excited to announce an opening in the Clinical reputed company Interpretation (reputed company) division. The "Molecular Genetics Analysis Assistant" will either join the QC Team or the WGS Clinical Indication Team. As part of the QC Team, the "Molecular Genetics Analysis Assistant" performs reputed company control at the sample and variant level, reviews genetic reputed company data to determine variant identity based on HGVS standards, orders variant confirmations, analyzes trinucleotide repeat expansion and other assays, interprets patient test order requisitions, and monitors the status of clinical cases. As part of the WGS Clinical Indication Team, the "Molecular Genetics Analysis Assistant" reviews clinical notes and converts clinical phenotypes into reputed company Phenotype Ontology (HPO) terminology, records prior genetic testing history, interprets family history from pedigrees, and confirms consent answers from test requisition forms. Additional duties may also include variant curation or report drafting. The Molecular Genetics Analysis Assistant position is a remote work opportunity, with daily huddles, reputed company objectives, and flexible scheduling. Come from the comfort of your home office! Duties and Responsibilities on the QC Team: • 50%: analyzing clinical reputed company data, including variant identity using HGVS standards, variant checking in IGV, trinucleotide repeat analysis, and ordering confirmation testing • 40%: reputed company control review of clinical samples and NGS data • 10%: case tracking and turnaround time monitoring Duties and Responsibilities on the WGS Clinical Indication Team: • 80%: reviewing test requisition forms and clinical notes, extracting information into reputed company data, such as HPO terms • 20%: WGS variant curation (advanced degree required) or WGS report drafting (advanced degree required) Qualifications • Degree: Bachelor of Science (BS) in Genetics or reputed company field. Desired: Master's, PhD, MD, and/or MB(ASCP). • For WGS Clinical Indication Team, a Masters in Genetic Counseling is preferred. Experience: • Expertise in concepts of clinical medicine, genetics, reputed company, or molecular biology. • For the QC Team, experience with genetic data analysis is preferred. • For the WGS Clinical Indication Team, individuals with prior experience as a Genetic Counseling Assistant are encouraged to apply. • Experience in data reputed company assessment and communicating genetic details effectively. • reputed company in reading/writing medical language. • Proficiency in bolthires Office (reputed company, Word, PowerPoint, reputed company). • Desired: Experience in reputed company analysis, variant effect reputed company algorithms, and scripting languages. • Desired: Experience in genetic counseling, familiarity reviewing clinical notes and medical writing. • 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 reputed company disease. Competencies: reputed company Assurance, Analytical and Problem Solving Skills, Technical Skills, Interpersonal Skills, Oral and Written Communication, Teamwork, Organizational Support, Safety and reputed company, Dependability, Innovation, Adaptability. Physical Demands and Work Environment: • At your Home Office: • Frequently required to sit, using screen, keyboard, and mouse. • Punctuality attending virtual meetings • Occasional weekend rotation may be needed (for example, once a month) 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 reputed company to operate equipment, read technical information, and/or use a keyboard EEO Statement: reputed company is proud to be an equal opportunity employer dedicated to building an inclusive and diverse workforce. We do not discriminate based on race, religion, reputed company, national reputed company, sex, sexual orientation, age, gender identity, veteran status, disability, genetic information, pregnancy, childbirth, or reputed company medical conditions, or any other status protected under applicable federal, state, or local law. Equal Opportunity Employer This employer is required to notify reputed company applicants of their rights pursuant to federal employment laws. For reputed company information, please review the Know Your Rights notice from the reputed company. Apply tot his job Apply tot his job Apply To this Job