Overview:

Job Description Summary:

Accurately identifies, classifies, and documents variants following practice guidelines under the direction of the Laboratory Directors and Variant Scientists. Assists with the day-to-day operations of variant assessment, curation, and documentation to accurately identify and classify genomic alterations detected through genomic testing and translational studies.

Job Description:

Essential Functions:

• Analyzes and interprets genomic data to identify genetic variants and their potential clinical significance. Maintains ongoing knowledge of current theories and principals of human medical genetics, cancer genetics and hereditary cancer disorders.
• Utilizes various bioinformatics tools and databases to perform variant annotation and classification.
• Collaborates with other members of the clinical team to review and interpret genomic findings.
• Prepares detailed clinical reports summarizing genomic findings and their implications for patient care.
• Participates in quality control and quality assurance activities to ensure accuracy and consistency of genomic data analysis.
• Stays up-to-date with the latest developments in genomics and bioinformatics, and applies this knowledge to improve variant analysis workflows and methodologies.

Education Requirement:
Bachelor's Degree in molecular genetics, human genetics, genetic counseling, molecular pathology, or computational field, required.

Licensure Requirement:
(not specified)

Certifications:
(not specified)

Skills:

• Moderate knowledge of principles of variant interpretation and analysis, including Human Genome Variation Society nomenclature.
• Moderate 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 critically read and interpret data independently from scientific publications.
• Ability to perform advanced technical writing, as well as excellent communication and computer skills.
• Good organizational and interpersonal skills. Ability to initiate and work on several projects at a time with minimal supervision; motivation to follow through to completion while adhering to deadlines and maintaining accurate records.

Experience:

• Five years of experience in Laboratory Genetics, Cancer Genomics, Computational biology or a related field, required.
• Experience in variant analysis, preferred.

Physical Requirements:
OCCASIONALLY: Bend/twist, Climb stairs/ladder, Cold Temperatures, Flexing/extending of neck, Fume /Gases /Vapors, Hand use: grasping, gripping, turning, Hot Temperatures, Lifting / Carrying: 11-20 lbs, Loud Noises, Reaching above shoulder, Repetitive hand/arm use, Squat/kneel

FREQUENTLY: Color vision, Peripheral vision, Seeing - Far/near, Standing, Walking

CONTINUOUSLY: Audible speech, Computer skills, Decision Making, Depth perception, Hearing acuity, Interpreting Data, Lifting / Carrying: 0-10 lbs, Problem solving, Sitting

Additional Physical Requirements performed but not listed above:
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.

"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 individuals 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 their supervision. EOE M/F/Disability/Vet"