Clinical Variant Scientist - DLMP

Mayo Clinic • Rochester, MN

3d

About The Position

The Variant Scientist functions in the clinical lab interpretive team, evaluating genomic test results to determine the pathogenicity and clinical significance of germline and somatic variants. The Variant Scientist evaluates functional, computational, and clinical data to assess variant pathogenicity, and summarizes pertinent data for patient reports. The Variant Scientist develops and maintains gene-level curation resources to support clinical test interpretation. The Variant Scientist participates as appropriate in gene/variant curation-focused publications, database submissions, professional collaborations, and presentations at professional meetings. The Variant Scientist plays an active role in education and training of laboratory fellows and residents, graduate students, lab staff, and other students and trainees. The Variant Scientist contributes to ongoing process improvement in interpretive workflows and participates in new test development and implementation. At minimum, the variant scientist demonstrates proficiency applying ACMG/AMP variant classification guidelines for interpretation of SNVs and CNVs, and may include other variant classes such as mitochondrial variants, repeat expansions, and complex genomic findings. Variant scientists may also perform comprehensive technical evaluation of NGS data, including review of read-level evidence, coverage metrics, allele balance, structural variants, copy number variants, and other complex genomic findings using IGV and related visualization tools. Individuals hired to this position are required to complete 2 years in this position before becoming eligible to transfer to other positions within Mayo Clinic.

Requirements

• MS, PhD, or equivalent in genetics, genetic counseling, molecular biology, or related field.
• Strong background in molecular genetics, human genetics, molecular pathology, or related medical specialties is necessary.
• Good understanding of sequencing technologies (Sanger and next generation sequencing).
• Demonstrated ability to work in a fast-paced, team-based environment.
• Excellent oral and written communication skills.
• Superior problem-solving and organizational skills.
• Strong attention to detail.
• Computer skills appropriate for laboratory practice.
• Proficiency with interpretation and application of ACMG/AMP variant classification guidelines is necessary for this position.

Nice To Haves

• Familiarity with professional standards for variant classification is preferred.
• Experience in germline and/or somatic variant curation using in silico analysis tools, variant databases, and primary literature evaluation is strongly desired.
• Skills in statistical analysis, bioinformatics, or complex data integration preferred.
• Appropriate licensure or other certification pertinent to the laboratory field may be required depending on the laboratory specialty.
• At least two years of experience in a Clinical Genomics Laboratory is preferred.

Responsibilities

• Evaluating genomic test results to determine the pathogenicity and clinical significance of germline and somatic variants.
• Evaluating functional, computational, and clinical data to assess variant pathogenicity.
• Summarizing pertinent data for patient reports.
• Developing and maintaining gene-level curation resources to support clinical test interpretation.
• Participating in gene/variant curation-focused publications, database submissions, professional collaborations, and presentations at professional meetings.
• Playing an active role in education and training of laboratory fellows and residents, graduate students, lab staff, and other students and trainees.
• Contributing to ongoing process improvement in interpretive workflows.
• Participating in new test development and implementation.
• Performing comprehensive technical evaluation of NGS data, including review of read-level evidence, coverage metrics, allele balance, structural variants, copy number variants, and other complex genomic findings using IGV and related visualization tools.

What This Job Offers

• Job Type: Full-time
• Career Level: Mid Level