Clinical Variant Scientist - DLMP

Mayo Clinic•Rochester, MN

4d•$88,005 - $132,080

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.

Requirements

Proficiency applying ACMG/AMP variant classification guidelines for interpretation of SNVs and CNVs.
May include other variant classes such as mitochondrial variants, repeat expansions, and complex genomic findings.
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.

Responsibilities

Evaluate genomic test results to determine the pathogenicity and clinical significance of germline and somatic variants.
Evaluate functional, computational, and clinical data to assess variant pathogenicity.
Summarize pertinent data for patient reports.
Develop and maintain gene-level curation resources to support clinical test interpretation.
Participate in gene/variant curation-focused publications, database submissions, professional collaborations, and presentations at professional meetings.
Play an active role in education and training of laboratory fellows and residents, graduate students, lab staff, and other students and trainees.
Contribute to ongoing process improvement in interpretive workflows.
Participate in new test development and implementation.