Genomics Curation Scientist Assoc

SUMMARY

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

Precision Diagnostic PDx Lab

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

An employee in this position may be called upon to do any or all the following essential functions. These examples do not include all the functions which the employee may be expected to perform.

1. Responsible for reviewing literature and evaluate evidence to assess gene disease association according to established laboratory protocol.

2. Draft, review, and revise gene interpretation language for clinical laboratory reports as appropriate the to clinical disease presentation of the patient.

3. Accurate curation of variants identified through clinical molecular genomics testing following established laboratory determined practice guidelines.

4. Documentation of findings from review and interpretation of scientific publications to determine strength of evidence and ranking with strong attention to detail and traceability.
5. 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.
6. 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.
7. Assist in generating clinical reports for high complexity genetic tests and in maintaining accreditation standards, to include all check sheets and quality control information sheets.
8. Assist in efforts related to requesting, following up and reviewing of supporting laboratory analyses needed for reporting clinical results.
9. Learns to recognize and participates in the resolution of abnormal, unusual, or unexpected results; appropriately identify issues and resolve and/or disseminate to laboratory leadership.
10. Provides feedback to operational, scientific, and professional staff to optimize variant annotation and interpretation workflows. In addition, provides feedback to data analysis and bioinformatics team to support continuous improvement of data analysis workflows.

11. Participates in procedure review and writing when requested.

MINIMUM QUALIFICATIONS

EDUCATION -Masters in Science or Genetic Counseling

EXPERIENCE - Two (2) year of experience in genomics and working knowledge of genetic variant databases. Track record of critically assessing scientific literature and resolving inconsistencies. Basic understanding of NGS technologies, data quality and analytical workflows.

EQUIVALENCY - N/A

CERTIFICATION(S) - N/A

LICENSURE - N/A

PREFERRED QUALIFICATIONS

• Strong preference for a PhD, although clinical certifications are not required.

• Experience working at Clinical Reference or Hospital Laboratories

Salary Information
Pay is dependent on applicant's relevant experience.

Annual Salary Range (Based on 40 hours worked per week): $112,925.52 to $169,388.27

Benefits Information
Here, you matter. As a Children's Hospital Colorado team member, you will receive a competitive pay and benefits package designed to take care of your needs that includes base pay, incentives, paid time off, medical/dental/vision insurance, company provided life and disability insurance, paid parental leave, 403b employer match (retirement savings), a robust wellness program, and access to professional development tools, including an education benefit to help you advance your career.

As part of our Total Rewards package, Children's Colorado offers an annual employee bonus program that rewards eligible team members based on organizational performance. If organizational goals are met for the year, the bonus is paid out the following April.

Children's Colorado delivers annual base pay increases to eligible team members based on their performance over the previous year.

EEO Statement
It is our intention that all qualified applicants be given equal opportunity and that selection decisions be based on job-related factors. We do not discriminate on the basis of race, color, religion, national origin, sex, age, disability, or any other status protected by law or regulation. Be aware that none of the questions are intended to imply illegal preferences or discrimination based on non-job-related information. The position is expected to stay open until the posted close date. Please submit your application as soon as possible as the posting is subject to close at any time once a sufficient pool of qualified applicants is obtained.

Colorado Residents: In any materials you submit, you may redact or remove age-identifying information such as age, date of birth, or dates of attendance at or graduation from an educational institution. You will not be penalized for redacting or removing this information.

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