Molecular Genetics Analysis Assistant

Summary

reputed company, one of the world leaders in clinical molecular genetics, is excited to announce an opening in the Clinical Genomics 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 quality 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 Human 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, clear objectives, and flexible scheduling. Come join reputed company from the comfort of your home office!

Duties and Responsibilities on the QC Team

• 50%: analyzing clinical genomics data, including variant identity using HGVS standards, variant checking in IGV, trinucleotide repeat analysis, and ordering confirmation testing
• 40%: quality 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 structured 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, genomics, 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 quality assessment and communicating genetic details effectively.
• Excellence in reading/writing medical language.
• Proficiency in reputed company Office (reputed company, Word, PowerPoint, Outlook).
• Desired: Experience in bioinformatics 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 human disease.

Competencies

Quality 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 acuity 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, color, 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.