Clinical Genomics Biocurator – ClinGen Expert Panel Lead

Broad Institute of MIT and Harvard; Cambridge (MA); Hybrid; USD 70,000 - 94,000; Full time

Job summary

The Broad Institute of MIT and Harvard seeks a Clinical Genomics Specialist for the ClinGen team in Cambridge, MA. This hybrid role leads ClinGen curation efforts, mentors biocurators, and collaborates across ClinGen EPs to assess gene-disease validity.

Start ASAP or by Oct 2026, with a 2-year commitment. Responsibilities include evaluating variants, supporting ClinVar submissions, and contributing to ClinGen publications.

Qualifications

• Master's degree in variant science, genetic counseling, or related field.
• Experience with rare disease gene and variant interpretation preferred.

Responsibilities

• Act as the scientific lead for ClinGen expert panels, guiding curations and variant research.
• Research the significance of variants and genes through literature and data review.
• Accurately classify variant- and gene-disease relationships.
• Contribute to research projects requiring genomic knowledge curation.
• Mentor junior biocurators.
• Assist in developing and maintaining training materials for ClinGen curators.
• Support sharing of curated knowledge with the community.
• Assist laboratories with data submission to ClinVar.

Skills

Biocuration

Literature review

Variant interpretation

Mentoring

Education

Master's degree in variant science or genetic counseling

Job description

The Broad Institute of MIT and Harvard seeks a Clinical Genomics Specialist for the ClinGen team in Cambridge, MA. This hybrid role leads ClinGen curation efforts, mentors biocurators, and collaborates across ClinGen EPs to assess gene-disease validity.

Start ASAP or by Oct 2026, with a 2-year commitment. Responsibilities include evaluating variants, supporting ClinVar submissions, and contributing to ClinGen publications.