Genomics Variant Analyst

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Job ID

102467

Location

Aurora

Position Type

Regular

Regular / Temporary

Regular

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Job Overview

The Precision Diagnostics Laboratory (PDL) at Children's Hospital Colorado is a CLIA licensed, CAP accredited laboratory providing high complexity genomic tests. We are searching for a qualified variant curation analyst to support the laboratory's current clinical tests. The PDL performs clinical genomic testing for germline and acquired genetic diseases. This role will focus on analysis and interpretation of next-generation sequencing data generated from existing and planned oncology panels, whole exome / genome, and gene panel assays. The incumbent will be part of a cross-functional team and will interface with other analysts, providers, molecular geneticists, and molecular pathologists for the interpretation of sequence variants. The candidate should have a strong background in genetics and have good attention to detail and be an excellent communicator.

Additional Information

Department : Precision Diagnostic PDX Lab

Hours per week : 40, eligible for benefits

Shift : Monday - Friday, 8am - 5pm, work hours may vary based on the needs of the department. This position has potential to be fully remote if applicant is located within CHCO hiring region.

Responsibilities

• Curations of variants identified through clinical molecular genomics testing following established laboratory determined practice guidelines.
• Documents findings from review and interpretation of scientific publications to determine strength of evidence and ranking with strong attention to detail and traceability.
• Compiles and distills 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.
• Participates in evaluation of relevance of genes to human disease associations and procedure review and writing when requested.
• Presents 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.
• Assists in generating clinical reports for high complexity genetic tests.
• Coordinates efforts related to requesting, following up and reviewing of supporting laboratory analyses needed for reporting clinical results.
• Recognizes and resolves abnormal, unusual, or unexpected results; appropriately identify issues and resolve and / or disseminate to laboratory leadership.
• Provides feedback to operational, scientific, and professional staff to optimize variant annotation, interpretation workflows, data analysis and bioinformatics team to support continuous improvement of data analysis workflows.
• Assists in maintaining accreditation standards, to include all check sheets and quality control information sheets.

Minimum Qualifications

EDUCATION - Doctoral degree (Ph.D. or M.D. / Ph.D.) in Molecular Genetics, Human Genetics, or a related field from an accredited institution.

EXPERIENCE - Two (2) years' experience in molecular genetics variant analysis or case review and sign out in a clinical laboratory setting. Broad knowledge of genetic variant databases and their utility is essential with a basic knowledge of NGS wet-bench techniques, data quality, and bioinformatics tools.

EQUIVALENCY - Combination of education and / or clinical experience : Bachelor's degree and six (6) years or master's degree and four (4) years.

CERTIFICATION(S) - For eligible candidate only - board certification by American Board of Medical Genetics and Genomics (ABMGG) is preferred upon hire or within 1 year.

Salary Information

Pay is dependent on applicant's relevant experience.

Annual Salary Range (Based on 40 hours worked per week) : $90,900.58 to $136,350.88

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.