Clinical Genomics Coordinator

We are seeking motivated individuals to work in a cutting-edge environment to serve as a clinical genomics coordinator 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 (https://www.clinicalgenome.org/). This position would begin with training within our variant and gene-curation team which supports variant classification and gene-disease validity assessment followed by supporting an array of ClinGen disease-specific Expert Panel activities and affiliated projects within ClinGen.

PRINCIPAL DUTIES AND RESPONSIBILITIES

• Support ClinGen curation activities
• Research the significance of variants and genes through literature and data review
• Classify variant- and gene-disease associations
• Support research projects that require curation of genomic knowledge
• Support the 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)
• Assist in the development of software tools for supporting variant and gene curation
• Assist in resolving variant interpretation differences between ClinVar submitters
• Assist Clinical Domain WGs in supporting gene and variant curation programs
• Support the writing of ClinGen research publications
• Support other projects related to genetic and genomic research at the Broad

• Qualifications: BA or BS degree in the sciences with 2+ years as a Clinical Genomics Assistant or related experience
• This role will be a hybrid position with an expectation of a minimum of 2-3 days physically in the office.
• Job locations: 300 Binney, Cambridge, MA

In addition, the applicant should possess excellent organizational skills and the ability to interact effectively with a local team at the Broad Institute and an international network of laboratories, disease experts and data sources and balance and manage multiple tasks and projects independently. The ClinGen team is part of the Translational Genomics Group (TGG, https://the-tgg.org/). 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 O’Donnell-Luria and the gnomAD project co-led by Mark Daly.

Start date: ASAP or by August 2026 with a minimum of a two-year commitment
Reports to: Marina DiStefano, PhD, FACMG, Director of Clinical Genomic Operations, BCL, Director of ClinGen Biocurator Core at Broad Institute