drjobs Clinical Genomics Variant Scientist

Clinical Genomics Variant Scientist

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1 Vacancy
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Job Location drjobs

Columbus, OH - USA

Monthly Salary drjobs

Not Disclosed

drjobs

Salary Not Disclosed

Vacancy

1 Vacancy

Job Description

Overview:



Job Description Summary:


Accurately identifies classifies and documents variants following practice guidelines under the direction of the Laboratory Directors and Senior and Lead Variant Scientists. Assists with the daytoday 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:

  • Performs technical review of sequencing (Sanger and NextGeneration) and other molecular data.
  • Provides accurate and timely variant assessment including evaluation of published literature and clinical data to provide precise thorough and thoughtful clinical interpretation of results.
  • Maintains laboratory variant knowledgebase. Assists with curation and harmonization of variant classification changes over time. Maintains knowledge of CAP laboratory requirements related to sequencing and variant analysis. Writes procedures and other documents in support of ongoing laboratory accreditation.
  • Possesses knowledge of current theories and principals of human medical genetics cancer genetics and hereditary cancer disorders.
  • Thoroughly documents findings per laboratory standard operating procedures. Assists with research development validation and documentation of new genomic assays. Demonstrates knowledge of and upholds applicable laws and regulations. Maintains knowledge of techniques procedures and protocols. Reviews and acknowledges procedures as required.
  • Assists in process development and improvement within the department including participating in quality assurance continuing education programs and department meetings.


Education Requirement:

  • Masters Degree in molecular genetics human genetics or molecular pathology required.
  • PhD in biological sciences preferred.


Licensure Requirement:

(not specified)


Certifications:

(not specified)


Skills:

  • Strong analytical skills and ability to critically read and interpret data from scientific publications.
  • Ability to do technical writing as well as good 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:

  • Two years of significant and relevant experience including variant classification (including Genetic Counselors with relevant experience) required.
  • Two years of experience in genetics preferred.
  • Extensive experience in data mining and organization.


Physical Requirements:

OCCASIONALLY: Bend/twist Climb stairs/ladder Flexing/extending of neck Fume /Gases /Vapors Hand use: grasping gripping turning Lifting / Carrying: 1120 lbs Lifting / Carrying: 2140 lbs Loud Noises Reaching above shoulder Repetitive hand/arm use Squat/kneel

FREQUENTLY: Standing Walking

CONTINUOUSLY: Audible speech Color vision Computer skills Decision Making Depth perception Hearing acuity Interpreting Data Lifting / Carrying: 010 lbs Peripheral vision Problem solving Seeing Far/near 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 betterthanaverage ability to write.






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

Employment Type

Full-Time

Company Industry

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