Confidential
Job Title: Clinical Genomic Scientist- Variant Curation
Company: Confidential
Location: Remote, United States
Work Type: remote
Job Description
Summary:
The “Clinical Genomics Scientist” 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.
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
Qualifications/Experience
Degree: PhD or MD in clinical medicine, genetics, molecular biolo
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