Description
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Summary:
Variant Analysts are experts within the UNC Medical Center McLendon Clinical Laboratories regarding the analysis of patient genetic data for identification of genetic variants associated with cancer and heritable disease. This role will lead and educate other team members on variant interpretation within the UNC Medical Center Molecular Pathology and Genetics Laboratory. Key functions of this position include (1) the development and maintenance of variant databases to support targeted somatic and germline next-generation sequencing panels, (2) development and application of variant interpretation workflows based on professional guidelines for somatic and germline variants, and (3) development of reporting workflows. Variant classification will occur in a CLIA-certified, CAP-accredited clinical laboratory guided by existing professional guidelines and incorporating data from peer-reviewed literature, public and private databases, and other sources. This position will interact on a daily basis with an engaged team of medical and technical directors, clinical laboratory scientists, and bioinformaticians. This individual will bring expertise in genetics, genomics, statistics, and informatics to an existing highly functional team. The Variant Analyst is a critical member of a team focused on supporting optimal molecular-guided care for UNC Health patients.
Responsibilities:
Variant Database Development and Variant Analysis – Assists in design and devolpment of variant databases to automate and streamline variant reporting in support of targeted somatic and germline next-generation sequencing panels. Participates in design/development of variant data investigation workflows, reporting and analytical solutions. Develops and/or enhances database objects, including queries, procedures, and views. Establishes scalable, efficient, automated processes for large panel variant analyses, including validation and implementation.
Technical Reporting & Documentation - Develops and monitors quality assurance metrics. Creates and/or manages interfaces between analysis software, variant databases and the Epic/Beaker electronic medical record result reporting software. Designs and/or enhances final clinical diagnostic report structure/layout.
Technical Support and Expertise - Works closely with medical and technical directors, clinical laboratory scientists to identify and advise efficient analysis and reporting workflow decisions. Provides application support by analyzing reported defects and replicating/fixing the defects. Acts as a resource for variant classification guided by incorporating data from peer-reviewed literature, public and private databases, and other sources. Ensures analysis and repoprting quality by creating, conducting, and documenting testing and validation. Identifies technical roadblocks and troubleshoots and resolves functional and performance related issues.
Collaboration and Teamwork - Works with teams to generate and organize workflows and policies necessary for effective clinical diagnostic analysis and reporting. Develops and maintains working relationships with internal departments and external contacts as appropriate.

EDUCATION REQUIREMENTS:

• Masters or PhD in Bioinformatics, Human Genetics, Genetic Counseling, or related area.

LICENSURE/CERTIFICATION REQUIREMENTS:

• No licensure or certification required.

PROFESSIONAL EXPERIENCE REQUIREMENTS:

• If a Master’s degree: Three (3) years of relevant experience.
• If a Doctorate degree: Two (2) years of relevant experience.
• Previous research or clinical experience evaluating clinical validity, variant curation, or variant interpretation for genetic testing assays.

KNOWLEDGE/SKILLS/AND ABILITIES REQUIREMENTS:

• Experience in next-generation sequencing technologies and interpretation strategies. Familiarity with bioinformatics tools and databases (eg GATK, IGV, NCBI, COSMIC). Knowledge of ACMG/CAP guidelines for interpretation and classification of germline and somatic variants. Computer skills are preferred, with knowledge in relevant software packages and languages such as, but not limited to, SAS, R, Python, SQL. A high degree of professionalism, enthusiasm, autonomy and initiative on a daily basis. Ability to work independently in a fast-paced environment. Excellent project management, planning, communication, documentation, organizational, analytical and problem solving abilities. Ability to interpret and summarize results of various analyses in a timely and meaningful way. Ability to communicate clearly and effectively both orally and in writing.

Please refer the Job description for details