The ClinGen Biocurator position will support the ongoing efforts of the Clinical Genome Resource (ClinGen) X-Linked Inherited Retinal Disease (XLIRD) Variant Curation Expert Panel (VCEP), coordinated by Dr. Kim Worley. This position entails assisting the VCEP in curating variants in the seven targeted genes according to ClinGen specifications with modifications as defined by the XLIRD VCEP. The Research Associate will support the panel as it defines the initial specifications for each gene, pilots the rules with selected variants, and reviews the remaining gene variants by curating variants using available published literature and the specifications. Will support the VCEP by preparing necessary paperwork, meeting reports and other activities as new duties emerge. Will also facilitate the training of expert panel members. This Research Associate will be expected to participate in meetings of the VCEP biocurators and conference calls with international domain experts. At minimum, the biocurator will attend monthly calls of the ClinGen Biocurator WG and the regular XLIRD VCEP. Successful job performance will require learning and implementing the curation frameworks and protocols developed by ClinGen and using the available curation tools and interfaces including the Variant Curation Interface. Will track the progress of their curation projects and will also provide feedback and updates on new procedures and ensure they are upheld within the VCEP.Job Duties
Data Analysis & Presentation of Results
- Log and participate in the curation activities of the VCEP as discussed with the coordinator, chair and co-chairs.
- Maintain thorough and appropriate documentation of results.
- Assist in preparation of research findings using standard computer software (e.g. Excel, PowerPoint, web-based interface).
- Communicate with PIs and other consortium members to ensure that the curation activities are accurately and comprehensively reported in annual progress reports.
ClinGen Variant Curation Activities
- Curation activities will be performed in a timely and accurate manner.
- Maintain up-to-date working knowledge of the documentation, frameworks and processes for biocuration, and provide instruction and training of these updates to new VCEP panelists.
- Assist in determining timelines and milestones for accomplishing assigned work with input from expert panel co-chairs.
- Establish and maintain training as an expert panel member on biocuration and mandated processes as set by ClinGen.
- Master's degree in Basic Science or a related field. Experience in lieu of degree will not be accepted.
- Three years of relevant experience typically as a Research Assistant, Research Technician or Postdoctoral Fellow/Associate.
- Masters in Genetic Counseling, Genetics, or a related field
- Must be well-versed in genetics and genomic medicine
- Experience supervising other junior members of the team
- Minimal travel is required to attend ClinGen Committee meetings
- Must have the ability to comprehend and instruct others on the application of complex curation processes to various genes
- Must be a self-starter who is capable of independently and creatively identifying and resolving issues and exploring new ideas to enhance progress while maintaining strong communication with the PI and VCEP experts
- Strong work ethic and sense of purpose are necessary
- Knowledge of the scientific principles of biology, specifically the central dogma of genetics and a basic understanding of physiology and disease: eye disease knowledge is beneficial
- Effective verbal and written communication, analytical and problem-solving skills, attention to detail, and hold high professional standards of work
Baylor College of Medicine requires employees to be fully vaccinated -subject to approved exemptions-against vaccine-preventable diseases including, but not limited to, COVID-19 and influenza.
Baylor College of Medicine is an Equal Opportunity/Affirmative Action/Equal Access Employer.