Clinical Genomics Scientist (Genomics)

TL;DR

Clinical Genomics Scientist (Genomics): Analyzing clinical genetics data, curating variants, and drafting clinical reports with an accent on ACMG and HGVS guidelines. Focus on interpreting genomic variation, selecting variants for curation, and validating cutting-edge technologies.

Location: Remote (United States)

Company

A clinical genetics laboratory focused on providing high-quality genomic and molecular diagnostics.

What you will do

• Curate variants and genes following ACMG guidelines.
• Analyze clinical genomics data and ensure variant nomenclature follows HGVS guidelines.
• Draft clinical reports and summarize findings for laboratory directors and R&D.
• Assist in the validation of cutting-edge technologies and software platforms.
• Refine internal processes and monitor test turnaround times.

Requirements

• Must be based in the United States.
• PhD/MD in clinical medicine, genetics, molecular biology, or be a Board-certified Genetic Counselor.
• 2-4 years of experience in clinical genomics or related fields.
• Thorough understanding of ACMG variant curation guidelines.
• Expertise in genomic variation and its correlation with human disease.
• Excellence in reading and writing medical language.

Nice to have

• Experience in bioinformatics analysis.
• Knowledge of variant effect prediction algorithms.
• Proficiency in scripting languages.

Culture & Benefits

• Full-time remote work environment.
• Commitment to diversity and an inclusive workforce (EEO employer).
• Collaboration with laboratory directors and R&D specialists.
• Flexible remote setup with occasional weekend rotations.