Clinical Genomic Scientist – Variant Curation

This is a fully remote position, open to applicants in United States.

📋 Description

• Curate variants, genes, and gene-disease associations in accordance with ACMG guidelines

• Analyze data from clinical genomics

• Choose variants for curation and verification

• Implement HGVS guidelines for variant naming

• Prepare clinical reports as required

• Support test validation efforts

• Enhance processes

• Present research findings

• Track test turnaround times

• Collaborate with laboratory directors and R&D in validating innovative technologies and software platforms

• Participate in virtual meetings and take part in occasional weekend rotations

⛳️ Requirements

• PhD or MD in clinical medicine, genetics, molecular biology, or a related field; or a Master's degree coupled with relevant experience

• 2-4 years of experience in clinical genomics or similar areas, including postdoctoral positions

• Comprehensive knowledge of the American College of Medical Genetics (ACMG) variant curation guidelines

• Familiarity with genomic variation and its links to human disease

• Proficient in clinical medicine, genetics, genomics, or molecular biology

• Experience in assessing data quality and effectively communicating genetic information

• Excellent skills in reading and writing medical terminology

• Competence in Microsoft Office (Excel, Word, PowerPoint, Outlook)

• Preferred: MB(ASCP) certification

• Preferred: experience in bioinformatics analysis, variant effect prediction algorithms, and scripting languages

• Capability to work efficiently in a remote setting

• Reliability and punctuality for virtual meetings

🏝️ Benefits

• Remote work from a home office

• Virtual meetings

• Occasional weekend rotation may be required (for instance, once a month)