Variant Curation Intern

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Pittsburgh, PA
Medical
Director of Clinical Genomics
ARIEL-Intern-2021
Part-time paid internship

Overview

ARIEL Precision Medicine is an innovative precision medicine company, transforming genetic and clinical data into new insights for the diagnosis, management and advanced therapeutic development for complex health conditions.

ARIEL Precision Medicine is looking for a highly motivated Variant Curation Intern to maintain ARIEL’s database of genomic variants,
curate new variants from the literature and external databases, and critically evaluate the scientific literature to support ARIEL’s clinical sequencing and genotyping offerings in an industry setting.

This internship is a paid position for approximately 10 hours per week with flexible working hours. The majority of hours can be completed remotely at this time. The Variant Curation Intern will support the clinical genomics team at ARIEL Precision Medicine by maintaining and updating ARIEL’s database of genetic variants. The Variant Curation Intern will integrate previously classified variants into ARIEL’s new database. Working closely with ARIEL’s clinical genomics team, the Variant Curation Intern will review the literature and assimilate new information for existing variants as a part of a semi-annual review process, as well as new variants to support clinical interpretation.

The Variant Curation Intern will work with the research and development teams at ARIEL to curate and interpret genomic variants from internal resources, the scientific literature and external databases. The candidate must be comfortable multi-tasking, practice effective time management, and demonstrate their ability to adapt to an ever changing, fast pace environment. Following completion of the contract period, there may be opportunity for longer term employment.

To apply, submit your application below.

 

Responsibilities

  • Maintain and update ARIEL’s database of genetic variants, including data entry.
  • Curation of genetic variants from internal resources, the scientific literature and external databases to support the clinical and research & development teams at ARIEL.
  • Critical review and summarization of the scientific literature and external databases to support semi-annual review of current variants and clinical interpretation of new variants.
  • Scientific writing.
  • Employee must complete training relating to HIPAA/PHI privacy, General Policies and Procedure Compliance training and security training, as soon as possible, but not later than the first 30 days of hire.
  • Perform other related duties, as assigned.
 
 

Qualifications

  • Bachelor’s degree in a life science such as biology, molecular biology or equivalent.
  • Prefer enrolled in an M.S. or Ph.D. graduate degree program in genetic counseling/human genetics/molecular biology or equivalent.
 
 

Preferred Skills

  • Ability to quickly review, interpret, integrate and summarize relevant medical and scientific literature.
  • Knowledge of genetic variant nomenclature.
  • Experience with genomic variant databases, including but not limited to ClinVar, dbSNP, and gnomAD.
  • Experience with scientific writing.
  • Proficient computer and data entry skills.
  • Effective verbal and written communication abilities.
  • Strong attention to detail and highly organized.
  • Research and/or laboratory experience is preferred.

 

Additional Notes

 

Physical Demands & Work Environment:
  • Duties are performed mainly in an office setting. 
  • Ability to sit at a desk for extended periods.
  • Long duration of keyboard and screen use is expected.

 

 

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