Clinical Genomics Specialist II, ClinGen Biocurator

About the role

The Clinical Genome Resource (ClinGen) is an NIH-funded program that is building authoritative resources to define the clinical relevance of genes and variants for use in precision medicine and research. This position would work closely with multiple ClinGen Expert Panels (EPs) working on classifying genes and variants for their role in disease. The role would involve direct biocuration as well as mentoring of research associates that support biocuration for the ClinGen EPs to ensure accurate usage of ClinGen rules and approaches as well as rigorous evaluation of evidence. The role would begin with training within our variant and gene-curation team (which supports variant classification and gene-disease validity assessment). Once trained, the individual would support an array of ClinGen disease-specific Expert Panel activities and affiliated projects within ClinGen and at the Broad Institute.

Principal duties and responsibilities

• Support ClinGen curation activities
• Act as the scientific lead for expert panels, leading them through curations and variant research
• Research the significance of variants and genes through literature and data review
• Accurately classifies variant- and gene-disease relationships
• Contribute to research projects that require curation of genomic knowledge
• Mentor junior biocurators
• Assist in the development and maintenance of training materials for internal and external ClinGen curators
• Support ClinGen's mission to provide better access to genomic data
• Support the sharing of curated knowledge with the community
• Assist laboratories with data submission to ClinVar (www.ncbi.nlm.nih.gov/clinvar)
• Collect data from locus-specific databases to deposit into ClinVar
• Assist in the development of software tools for supporting variant and gene curation
• Assist in resolving variant interpretation differences between ClinVar submitters
• Support the writing of ClinGen research publications
• Present at national meetings

Qualifications

• Master's in variant science, genetic counseling, or another relevant field required
• Experience with rare disease gene and variant interpretation preferred

Pay

$70,000.00/yr - $94,000.00/yr. The expected base pay range for this position as listed above is based on a 40 hour per week schedule. Actual compensation will vary based on factors including but not limited to, relevant skills, experience, education, qualifications, and other factors permissible by law.

Schedule

This role will be a hybrid position with an expectation of a minimum of 2-3 days physically in the office. Start date: ASAP or by October 2026 with a minimum of a two-year commitment.

Benefits

From day one, this role offers a competitive benefits package including medical, dental, vision, life, and disability insurance; a 401(k) retirement plan; flexible spending and health savings accounts; at least 13 paid holidays; winter closure; paid time off; parental and family care leave; and an employee assistance program, among other Broad benefits.