Clinical Genomic Scientist- Variant Curation

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