Clinical Genome Resource (ClinGen) Post-Doc

Organization
Partners HealthCare Personalized Medicine
Job Location
Cambridge, MA
Benefits

Competitive benefit package

Job Description

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)

Requirements

QUALIFICATIONS
•    Ph.D. in genetics or related field preferred

SKILLS AND ABILITIES REQUIRED
•    Ability to balance and manage multiple tasks and projects independently; detail-oriented, excellent organizational skills,

•    Ability to interact effectively with international network of laboratories and data sources.

•    Independence, initiative, and problem-solving ability.

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