Summary

ClinGen is a research program funded by the National Human Genome Research Institute (NHGRI) that is building a central resource to define the clinical relevance of genes and variants for use in precision medicine and research. This position will play a vital role in research and team science with members of the ClinGen team at Baylor College of Medicine and Stanford University and the international ClinGen consortium.

A ClinGen Research Assistant I position will encompass the following responsibilities as described. The RA will provide research assistance and support to ClinGen Working Groups (WG) and Gene and Variant Curation Expert Panels (EP) meetings. The RA will design and conduct biocuration related to clinically relevant genes and variants, in a research and team science context. The RA will collect, compile and analyze variant, curation and Consortium related data. In biocuration work, the RA will conduct literature searches and summarize information in an appropriate format for gene, variant or Consortium data. The RA will document and interpret results of curation, and report to supervisors and principal investigators. The RA will assist in documentation and coordination of the research activities and documentation and protocols for the curation and expert panel process of ClinGen. The RA will select and determine appropriate research procedures and protocols for curation and ClinGen WGs. The RA may assign activities to members of the ClinGen consortium, as well as performs other job related duties in team science as assigned.

Job Duties

• Research assistance and support to ClinGen Working Groups (WG) and Gene and Variant Curation Expert Panels (EP) meetings.
• Designs and conducts biocuration, in a research and team-science context.
• Collects, compiles and analyzes variant, curation and Consortium related data.
• Conducts literature searches and summarizes information in an appropriate format for a particular study.
• Documents and interprets results of curation, and reports to principal investigators.
• May assist in user-feedback for curation tools development and use/modify curation tools.
• Selects and determines appropriate research procedures.
• Oversees the maintenance of ClinGen documentation and protocols.
• May assign activities to less experienced research staff.
• Performs other job related duties as assigned.
• Synchronize researchers across time zones via email, develop meeting agendas
• Summarize research meetings and maintain curation and researcher lists
• Documents ClinGen processes and uses Google docs and MS Office suite.
• Develops and contributes to educational research activities in the ClinGen grant and NIH research progress reporting.

Minimum Qualifications

• Bachelor's degree in a Basic Science or a related field.
• Two years of relevant experience.

Preferred Qualifications

• Master's degree in basic science ora related field.
• Prior experience in a working group or expert panel of The Clinical Genome Resource, or biocuration, variant or gene curation experience.