Job Title: Clinical Variant ScientistJob DescriptionThe 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.Responsibilities
Evaluate germline next generation sequencing test results for patients with rare disorders.
Classify variants utilizing the ACMG 2015 guidelines and summarize pertinent data for patient reports.
Perform technical review of sequencing data in IGV, evaluate gene-disease validity, assess candidate genes, and review phenotypic overlap.
Focus on whole genome/whole exome variant classification.
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 and participate in new test development and implementation.
Requirements
M.S., PhD, or equivalent in Genetic Counseling, Genetics, Molecular Biology, or related field.
3+ years experience in germline variant interpretation.
Additional Skills & Qualifications
Experience with variant evaluation for whole exome/genome sequencing, including secondary findings.
Experience with variant curation using in silico analysis tools, variant databases, and primary literature evaluation.
Experience in report writing.
Working knowledge of software tools including IGV.
Work EnvironmentRemote. 40 hours a week, between 8am to 5pm CST, Monday through Friday. Other schedules could be considered.Pay and BenefitsThe pay range for this position is $60.00 - $80.00/hr.Eligibility requirements apply to some benefits and may depend on your job classification and length of employment. Benefits are subject to change and may be subject to specific elections, plan, or program terms. If eligible, the benefits available for this temporary role may include the following: Medical, dental & vision Critical Illness, Accident, and Hospital 401(k) Retirement Plan – Pre-tax and Roth post-tax contributions available Life Insurance (Voluntary Life & AD&D for the employee and dependents) Short and long-term disability Health Spending Account (HSA) Transportation benefits Employee Assistance Program Time Off/Leave (PTO, Vacation or Sick Leave)Workplace TypeThis is a fully remote position.Application DeadlineThis position is anticipated to close on Mar 31, 2025.About Actalent Actalent is a global leader in engineering and sciences services and talent solutions. We help visionary companies advance their engineering and science initiatives through access to specialized experts who drive scale, innovation and speed to market. With a network of almost 30,000 consultants and more than 4,500 clients across the U.S., Canada, Asia and Europe, Actalent serves many of the Fortune 500.Diversity, Equity & Inclusion At Actalent, diversity and inclusion are a bridge towards the equity and success of our people. DE&I are embedded into our culture through:
Hiring diverse talent
Maintaining an inclusive environment through persistent self-reflection
Building a culture of care, engagement, and recognition with clear outcomes
Ensuring growth opportunities for our people
The company is an equal opportunity employer and will consider all applications without regard to race, sex, age, color, religion, national origin, veteran status, disability, sexual orientation, gender identity, genetic information or any characteristic protected by law.If you would like to request a reasonable accommodation, such as the modification or adjustment of the job application process or interviewing process due to a disability, please email [email protected] (%[email protected]) for other accommodation options.