GENERAL SUMMARY/OVERVIEW STATEMENT:
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 Fellow in the Clinical Genome Resource (ClinGen) program as well as support other genomic medicine projects as they develop. ClinGen is a large NIHfunded 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 genedisease 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:
1.Become an expert in variant sciences
a.Research the significance of variants and genes through literature and data review
b.Classify variant and genedisease associations
2.Support the ClinGen program
a.Support the sharing of curated knowledge with the community
b.Generate a comprehensive list of locusspecific databases with the LOVD team
c.Facilitate aggregation of data from locusspecific databases
d.Support data sharing from incidental finding analyses from exome laboratories
e.Work with ClinVar in develop a JIRA tool for tracking variant discrepancies
f.Resolve variant discrepancies (interlaboratory OMIM etc)
Day Shift
Brigham and Womens Hospital is an Equal Opportunity Employer. All qualified applicants will receive consideration for employment without regard to race sex color religion national origin sexual orientation protected veteran status or on the basis of disability.
QUALIFICATIONS:
Ph.D. in genetics or related field preferred
SKILLS/ABILITIES/COMPETENCIES REQUIRED:
Ability to balance and manage multiple tasks and projects independently; detailoriented excellent organizational skillsAbility to interact effectively with international network of laboratories and data sources.Independence initiative and problemsolving ability.
WORKING CONDITIONS:
Clinical and research laboratory with extensive use of computers and online resources.
SUPERVISORY RESPONSIBILITY:
May have supervision of students and interns.