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IGM Clinical Genomics Variant Analyst
2 months ago
Overview
The Clinical Genomics Variant Analyst is responsible for accurately identifying and classifying variants detected through the Institute for Genomic Medicine Clinical Laboratory genetic testing platforms. The Variant Analyst will review and document variants following practice guidelines under the direction of the laboratory Directors and Variant Scientists. . The Variant Analyst will assist with new test development and adapt responsibilities as related to changes in the field of genomics.
Why Nationwide Children's Hospital?
The moment you walk through our doors, you feel it. When you meet our patient families, you believe it. And when you talk with anyone who works here, you want to be part of it. Welcome to Nationwide Children's Hospital, Where Passion Meets Purpose.
Here, Diversity, Equity and Inclusion are integrated into our core values and practices. We are passionate about building, sustaining and evolving an inclusive and equitable environment. We are seeking individuals who live these values and want to share their experiences and efforts in support of our collective mission.
We're 14,000 strong. And it takes every one of us to improve the lives of the kids we care for, and the kids around the world we'll never meet. Kids who live healthier, fuller lives because of the knowledge we share. We know it takes a Collaborative Culture to deliver on our promise to provide the very best, innovative care and to foster new discoveries, made possible by the most groundbreaking research. Anywhere.
Ask anyone with a Nationwide Children's badge what they do for a living. They'll tell you it's More Than a Job. It's a calling. It's a chance to use and grow your talent to make an impact that truly matters. Because here, we exist simply to help children everywhere.
Nationwide Children's Hospital. A Place to Be Proud.
Responsibilities
* Understands and demonstrates Nationwide Children's Hospital Staff Core Competencies.
* Performs technical review of sequencing (Sanger and Next-Generation) and other molecular data.
* Demonstrates ability to provide accurate and timely variant assessment, including evaluation of published literature and clinical data to provide accurate, thorough, and thoughtful clinical interpretation of results.
* Maintains ongoing knowledge of current theories and principals of human medical genetics, cancer genetics and hereditary cancer disorders.
* Assists with research, development, validation, and documentation of new genomic assays.
* Thoroughly documents findings, per laboratory standard operating procedures.
* Demonstrates self-management skills. Demonstrates the ability to work efficiently and independently, promoting a team environment and maintaining a cooperative and supportive atmosphere.
* Demonstrates knowledge of and upholds applicable laws and regulations related to position and clinical laboratories. Maintains knowledge of techniques, procedures, and protocols, lab-wide and within lab section. Reviews and acknowledges procedures as required.
* Assists in process development/improvement within the department including participating in quality assurance, continuing education programs, and department meetings.
* Demonstrates the discipline-specific technical and computer skills required for the appropriate section of the laboratory. Provides courteous and informative internal and external customer service
* Treats each patient/family as a top priority
* Takes responsibility to resolve customer's concerns
* Assures that the customer's expectation drives behaviors
* Continuously improves the quality of the services offered
* Ensures turnaround times are meet with quality results
Aspires to the NCH Vision
* Best Outcomes in everything we do, together delivering the best health care for children.
* Enhancing the health of children by engaging in high-quality, cutting edge research according tto the highest scientific and ethical standards.
Commits to the NCH core values
* Do the right thing
* Create a safe day every day
* Promote health and well-being
* Are agile and innovative
* Get results
Qualifications
KNOWLEDGE, SKILLS AND ABILITIES REQUIRED
* Advanced degree in molecular genetics, human genetics, genetic counseling, molecular pathology, or computational field or bachelor's degree with at least 3 years total experience in Laboratory Genetics, Cancer Genomics, or a related field.
* Basic knowledge of principles of variant interpretation and analysis, including Human Genome Variation Society nomenclature.
* Basic familiarity with bioinformatic processes and concepts such as variant discovery, including a knowledge of some genomic software including genome browsers and human variant databases.
* Strong analytical skills, attention to detail, and the ability to curate and document data from scientific publications.
* Ability to perform basic technical writing, as well as excellent communication and computer skills.
* Good organizational and interpersonal skills. Ability to work on several projects at a time with minimal supervision; motivation to follow through to completion while adhering to deadlines and maintaining accurate records.
MINIMUM PHYSICAL REQUIREMENTS
The position requires excellent manual dexterity, good visual acuity and hearing, and excellent communication skills as well as a better-than-average ability to write. Physical activities frequently include sitting, talking on the phone or in person, utilizing fine motor skills, standing, walking, and occasionally lifting up to 30 pounds independently.
The above list of duties is intended to describe the general nature and level of work performed by individuals assigned to this classification. It is not to be construed as an exhaustive list of duties performed by the individual so classified, nor is it intended to limit or modify the right of any supervisor to assign, direct, and control the work of employees under his/her supervision.
EOE M/F/Disability/Vet
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