Summary

The NIH-supported Clinical Genome Resource (ClinGen; clinicalgenome.org) is in the 3rd phase of funding. The Staff Scientist will be responsible for coordinating panels of experts in developing appropriate specifications (guidance) for hereditary cancer interpretation using the established ClinGen frameworks. The Staff Scientist will also join ClinGen committees that are implementing the updated variant classification for genetic disorders and will train members of the community on ClinGen processes for curating the scientific literature for gene curation.  The work is done using the web-based curation interfaces developed at Baylor College of Medicine and Stanford University. This position will specifically focus on genes related to hereditary cancer.

This position is all web-based, database-related and conference call related work. There are no laboratory bench experiments. The Clinical Genome Resource includes representatives from over 30 countries and excellent communication skills (both oral and written) are important to the success of this position which will include training outside members of the genetics community in ClinGen processes.

This position is eligible for a future hybrid work arrangement.

Job Duties

• Plan, direct and conduct curation of gene/disease evidence and variant/disease classification per the ClinGen frameworks.
• Conduct literature searches to identify relevant evidence for ClinGen curations and analyze this data in the variant or gene curation interfaces.
• Work with relevant ClinGen Working Groups to develop and improve processes for variant and gene curation and train curators on use of new frameworks being developed.
• Develop summaries of Working Group progress and present on a regular basis to the PI and to the ClinGen Oversight Committee.
• Write scientific manuscripts documenting the progress made through ClinGen curation and development of new methodologies.
• Serve as a support person to the activities of the NHGRI-supported Clinical Genome Resource (ClinGen) database and the associated working groups. In particular, the Staff Scientist is curating the medical literature for evidence of the association of genes with specific diseases (gene curation) and subsequent assessment of variants. The variant classification is based on the American College of Medical Genetics and Genomics (ACMGG) classification framework with an update being implemented in the coming year.
• Work as a bridge between the ClinGen clinical domain experts and the software development teams building the tools by participating in national weekly conference calls of the members of the ClinGen institutions.
• Serve as a liaison to new ClinGen curators and will answer any questions and oversee the quality of the curations entered into ClinGen curation interfaces.

Minimum Qualifications

• Doctoral Degree. Experience may not be substituted in lieu of degree.
• Three years of post doctoral research experience.

Preferred Qualifications

• PhD with at least three years' postdoctoral experience in work related broadly to the genetic basis of disease
• Must be familiar with the genetics literature and should be familiar with the ACMGG classification scheme.