The Laboratory for Molecular Medicine at Partners HealthCare Personalized Medicine is seeking a motivated individual to work in a cutting edge environment as a research associate in the Clinical Genome Resource (ClinGen) program as well as support other genomic medicine projects as they develop. ClinGen is a large NIH-funded project that is building a genomic knowledgebase to improve patient care.
This position would begin with training within our variant sciences team which supports variant classification and gene-disease validity assessment. This position would then move on to support activities in ClinGen including but not limited to those listed below.
PRINCIPAL DUTIES AND RESPONSIBILITIES
• Become an expert in variant sciences
• Research the significance of variants and genes through literature and data review
• Classify variant- and gene-disease associations
• Support the ClinGen program
• Support the sharing of curated knowledge with the community
• Generate a comprehensive list of locus-specific databases with the LOVD team
• Facilitate aggregation of data from locus-specific databases
• Support data sharing from incidental finding analyses from exome laboratories
• Work with ClinVar in develop a JIRA tool for tracking variant discrepancies
• Resolve variant discrepancies (interlaboratory, OMIM, etc)