Imagine being involved with innovative projects that change the course of our industry daily! At Labcorp, one of the world's largest and most comprehensive pharmaceutical solutions service companies, you will have an opportunity to build an exciting career while you make a direct impact on the lives of millions.

We have an excellent career opportunity for a Clinical Bioinformatics Scientist to join our growing team. This is a US remote based position. If you have a passion for making quality and data integrity a priority, this is an ideal position for you!

Position Summary

The Clinical Bioinformatics Scientist is part of a team responsible for the evaluation of the truth of clinically reportable variants and is often required to investigate unique genetic or genomic signals identified in production data. In addition to handling production data, the team is responsible for monitoring data quality metrics and troubleshooting the root cause of quality control failures related to both the mainline Next Generation Sequencing (NGS), Whole Genome Sequencing (WGS), and confirmatory assays. All the team's work directly impacts patient results, making problem-solving both motivating and rewarding and making quality and data integrity the most important aspects of the role.

• Strong knowledge of genetics
• Experience with NGS data analysis in either an academic or industry environment • Familiarity with IGV or other genome browsers
• Knowledge of common NGS alignment, variant calling, and visualization tools
• Familiarity and/or hands-on experience with NGS wet lab protocols, preferably in a production setting but academic knowledge may be sufficient
• Excellent written and verbal communication skills
• Familiarity with any of the following:
  
  
  • Laboratory Information Management Systems (LIMS)
  • Python, R, SQL, or other programming languages
  • git, GitHub, or other version control systems
  • Project management software such as Jira, Asana, Monday, etc.

• Review and assess the veracity of specific genetic variants (SNVs and CNVs) in NGS or WGS data that are flagged for manual intervention. This process entails making decisions that will determine if a variant is reported to a patient or not.
• Review results from confirmatory assays that corroborate or refute calls made in the primary assay. This can lead to contradictory results between assays where the scientist will need to make the final decision.
• Troubleshoot quality control anomalies generated by automated pipelines at the sample and/or batch level.
• Triage stuck samples, variants, and reports.
• Support other production duties like requests from other teams, production on-call shifts, and program development.
• Work collaboratively with other teams such as bioinformatics, automation, engineering, clinical genomics, laboratory scientists, laboratory directors, and research scientists in a cross-functional manner.

• Bachelor's degree in a biological field (e.g., biology, microbiology, genetics, genomics, bioinformatics, biochemistry, etc.) and four years of relevant professional experience, minimum requirement.
• Master's Degree in a biological field (e.g., biology, microbiology, genomics, bioinformatics, biochemistry, etc.) and two years of relevant professional experience preferred.