Clinical Genomics Biocurator & Lead, Variant Curation

Center for Therapeutic Genetics; Cambridge (MA); Hybrid; USD 110,000 - 140,000; Full time

Benefits offered by this job

Medical insurance

Dental insurance

Vision insurance

Life insurance

Disability insurance

401(k) retirement plan

Flexible spending accounts

Job summary

Broad Institute seeks a Clinical Genomics Specialist to lead ClinGen expert panels, perform high‑quality biocuration, and mentor junior staff. You will evaluate evidence, integrate literature, and support ClinGen disease‑specific activities within Broad Institute projects.

The role emphasizes collaboration with ClinGen EPs, training, and contributions to publications while maintaining rigorous ClinGen rules and data sharing standards.

Qualifications

• Master's in variant science, genetic counseling, or related field.
• Experience with rare disease gene/variant interpretation preferred.
• Strong attention to evidence quality and ClinGen rules.

Responsibilities

• Act as the scientific lead for expert panels, guiding curations and variant research.
• Research the significance of variants and genes via literature and data review.
• Accurately classify variant- and gene-disease relationships.
• Contribute to research projects requiring genomic data curation.
• Mentor junior biocurators to ensure quality.
• Develop and maintain training materials for ClinGen curators.

Skills

Biocuration

Literature review

Variant interpretation

Education

Master's in variant science or genetic counseling

Job description

Broad Institute seeks a Clinical Genomics Specialist to lead ClinGen expert panels, perform high‑quality biocuration, and mentor junior staff. You will evaluate evidence, integrate literature, and support ClinGen disease‑specific activities within Broad Institute projects.

The role emphasizes collaboration with ClinGen EPs, training, and contributions to publications while maintaining rigorous ClinGen rules and data sharing standards.