Unknown company

Discussion

Clinical Genomic Scientist- Carrier Screening

Open 34d

Summary:

The Clinical Genomics Scientist I analyzes clinical genetics data, curates variants and genes, and summarizes findings for clinical reports. Our scientists assist laboratory directors and R&D with validation of cutting-edge technologies and software platforms.

The Clinical Genomics Scientist I position is a remote work opportunity, with daily huddles, clear objectives, and flexible scheduling. Come join our team from the comfort of your home office!

Duties and Responsibilities:

  • Curation (50%): curation of variants, genes, and gene-disease correlation following ACMG guidelines

  • Analysis (30%): analyzing clinical genomics data, selecting variants for curation/confirmation, variant nomenclature following HGVS guidelines

  • Other (20%): may involve clinical report drafting, test validation, process refinement, presenting findings, monitoring test turnaround time and task delegation

Qualifications/Experience

  • Degree: PhD or MD in clinical medicine, genetics, molecular biology, or equivalent. Or strong candidates with a Master’s degree and relevant experience. Desired: MB(ASCP) certification.

  • Familiarity with American College of Medical Genetics (ACMG) variant curation guidelines.

  • Knowledge of genomic variation and its correlation with human disease.

  • 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

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:

  • 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)

Show