Genomics Curation Scientist Assoc

Job Overview

The Precision Diagnostics Laboratory (PDL) at Children’s Hospital Colorado is a CLIA licensed, CAP accredited laboratory providing high complexity genomic tests. The PDL performs clinical genomic testing for germline and acquired genetic diseases. The Genomics Curation Scientist Associate will focus on the curation of broad based next-generation sequencing tests. This role is part of a cross-functional team and will interface with other curation scientists, data quality specialists, providers, molecular geneticists, and molecular pathologists for the interpretation of variants.

Shift

Monday - Friday, 8:00 a.m. - 5:00 p.m., though work hours may vary based on the business needs of the department. This position is eligible to be fully remote if applicant is within eligible Children’s Hospital Colorado hiring regions.

Essential Functions

• Review literature and evaluate evidence to assess gene disease association according to established laboratory protocol.
• Draft, review, and revise gene interpretation language for clinical laboratory reports as appropriate to the clinical disease presentation of the patient.
• Accurately curate variants identified through clinical molecular genomics testing following established laboratory determined practice guidelines.
• Document findings from review and interpretation of scientific publications to determine strength of evidence and ranking with strong attention to detail and traceability.
• Compile and distill information from multiple sources (knowledge databases, clinical cases, scientific literature) to assist the variant curation process.
• Demonstrate a strong understanding of biology, molecular mechanism, and functional studies of human genetic disease genes.
• Clearly and concisely present variant classification evidence as it aligns with clinical presentation to support cross functional team members and to support clinical case discussion in Molecular Variant Resolution Boards.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Aid in generating clinical reports for high complexity genetic tests and in maintaining accreditation standards.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check sheets and quality control information sheets.
• Absorb and maintain accreditation standards, to include all check