Job Title: Clinical Variant Scientist

Job Description

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.

ResponsibilitiesEvaluate germline next-generation sequencing test results for patients with rare disorders.Classify variants utilizing the ACMG 2015 guidelines and other relevant guidelines for evaluating variant classes including SNVs, CNVs, and mitochondrial.Perform technical review of sequencing data in IGV, evaluate gene-disease validity, assess candidate genes, and review phenotypic overlap.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.Educate and train 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.Essential SkillsM.S., PhD, or equivalent in Genetic Counseling, Genetics, Molecular Biology, or related field.2.5+ years of experience in germline variant interpretation.Working knowledge of ACMG Variant Classification Guidelines.Strong background in molecular genetics, human genetics, or related medical specialties.Understanding of sequencing technologies including next-generation sequencing.Ability to work independently in a fast-paced environment to meet turn-around-time requirements.Proficiency with computer skills appropriate for laboratory practice.Additional Skills & QualificationsExperience with software tools including IGV.Experience with variant evaluation for whole exome/genome sequencing, including secondary findings.Experience with report writing.Familiarity with professional standards for variant classification.Experience in germline and/or somatic variant curation using in silico analysis tools, variant databases, and primary literature evaluation.Work Environment

Remote, 40 hours a week, between 8am to 5pm CST, Monday through Friday. Other schedules could be considered.

Pay and Benefits

The 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 Type

This is a fully remote position.

Application Deadline

This position is anticipated to close on Feb 28, 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 actalentaccommodation@actalentservices.com for other accommodation options.