Clinical Genomics Specialist II, ClinGen Biocurator
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Job Summary
Clinical Genomics Specialist - ClinGen team
We are seeking a motivated individual to work in a cutting-edge environment at the Broad Institute to serve as a clinical genomics specialist/biocurator for the Clinical Genome Resource (ClinGen). 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 ClinGens mission to provide better access to genomic data
- Support the sharing of curated knowledge with the community
- Assist laboratories with data submission to ClinVar ( 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
The TGG supports the use of genomics in medicine by focusing on community-centered projects that promote collaboration data sharing and open science. The TGG is led by Heidi Rehm and consists of high-impact projects such as the Center for Mendelian Genomics co-led by Anne ODonnell-Luria and the gnomAD project co-led by Mark Daly.
Start date: ASAP or by October 2026 with a minimum of a two-year commitment.
Qualifications: Masters in variant science genetic counseling or another relevant field required; Experience with rare disease gene and variant interpretation preferred
Job locations: 300 Binney Cambridge MA
This role will be a hybrid position with an expectation of a minimum of 2-3 days physically in the office.
Reports to: Marina DiStefano PhD FACMG Director of Clinical Genomic Operations BCL Director of ClinGen Biocurator Core at Broad Institute
Required Experience:
IC
About Company
Broad Institute is a multidisciplinary community of researchers on a mission to improve human health.
