Clinical Genomic Specialist I

Broad Institute; Cambridge (MA); Hybrid; USD 65,000 - 90,000; Full time

Benefits offered by this job

Medical insurance

Dental insurance

Vision insurance

Life insurance

Disability insurance

401(k) retirement plan

FSAs/HSAs

Paid holidays

Paid time off

Parental leave

Employee assistance program

Job summary

The Broad Institute is seeking a Clinical Genomics Coordinator for ClinGen in Cambridge, MA. The role begins with training in variant and gene curation and evolves to support ClinGen Expert Panels and related projects.

Ideal candidates hold a science degree with 2+ years in clinical genomics, excellent organization, and ability to collaborate across an international network of labs and researchers at Broad.

Qualifications

• BA or BS degree in the sciences with 2+ years in Clinical Genomics or related experience.
• Experience with variant and gene-disease curation is preferred.
• Strong organizational and collaboration skills for local and international teams.

Responsibilities

• Support ClinGen curation activities and research the significance of variants and genes.
• Classify variant- and gene-disease associations and support related research.
• Assist in submission of data to ClinVar and development of curation tools.
• Support ClinGen Expert Panels and disease-specific activities.
• Contribute to research publications and other Broad project efforts.

Skills

Literature review

Variant-disease interpretation

Genomic data review

Cross-team coordination

Education

BS/BA in sciences

Tools

ClinVar submission tools

Job description

Description & Requirements

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

1. 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
2. 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 (https://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
3. Support other projects related to genetic and genomic research at the Broad

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

Qualifications: BA or BS degree in the sciences with 2+ years as a Clinical Genomics Assistant or related experience

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.

The expected base pay range for this position as listed above is based on a 40 hour per week schedule. Broad provides pay ranges representing its reasonable and good faith estimate of what the organization reasonably expects to pay for a position at the time of posting. Actual compensation will vary based on factors including but not limited to, relevant skills, experience, education, qualifications, and other factors permissible by law.

At Broad, your base pay is just one part of a comprehensive total rewards package. 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.

The Broad Institute is an equal opportunity employer. All qualified applicants will receive consideration for employment without regard to race, national origin, religion, age, color, sex, disability, protected veteran status, or any other characteristic protected by local, state, or federal laws, rules, or regulations.

Should you need a reasonable accommodation to complete the application or interview process, please contact [e-mail] for assistance.