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 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: - 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.
- Seeking a minimum of a two-year commitment
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.
The Broad Institute will not offer visa sponsorship for this opportunity.
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.
