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Lead Bioinformatics Scientist - Sample to Answer

Job in San Diego, San Diego County, California, 92121, USA
Listing for: Personal Genome Diagnostics (pgdx)
Full Time position
Listed on 2026-08-24
Job specializations:
  • IT/Tech
    Data Scientist, Data Analyst
  • Research/Development
    Data Scientist
Job Description & How to Apply Below

Lead Bioinformatics Scientist

Labcorp is a global leader in diagnostic testing and drug development solutions, helping healthcare providers, researchers, and patients make informed decisions that advance care. We are dedicated to bringing comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. We are leading the transformation of the genetics industry, by making clinical-grade genetic information affordable and accessible to guide health decisions across all stages of life.

Join us in our mission to improve health and improve lives.

Labcorp is seeking a US based remote Lead Bioinformatics Scientist to join our team!

Job Responsibilities:

The Sample-to-Answer Center of Excellence (CoE) within the Lab Corp Information Technology department manages a wide range of diagnostic tests using advanced technologies such as next-generation sequencing and microarrays. This position provides a unique opportunity to interact with CoE personnel and gain hands-on experience solving real-world problems in data science and bioinformatics. The role also contributes directly to Lab Corp’s research and development efforts by addressing complex data science challenges and accelerating critical production development initiatives.

Produce innovative solutions driven by exploratory data analysis from complex and high-dimensional datasets. Apply knowledge of statistics, data modeling, data sciences and artificial intelligence to recognize patterns, identify opportunities and make valuable discoveries. Use a flexible, analytical approach to design, develop, and evaluate predictive models for single-gene non-invasive Fetal Screening (NIFS). Generate and test hypotheses and be involved from ideation through delivery.

Key Responsibilities:

  • Collaborates with R&D scientists on the development of new assays, measurement technologies, and tests for evaluating clinical conditions.
  • Perform sophisticated analysis of genomic, transcriptomic, or proteomic datasets using state-of-the-art bioinformatics tools and NGS pipelines.
  • Performs statistical and bioinformatics analyses of experimental data produced by clinical testing instruments such as DNA sequencers and other molecular instruments.
  • Conducts data mining over internally produced and publicly available data sets.
  • Provides analysis information to management to aid in decision making on the development of new laboratory developed tests.
  • Develop statistical classifiers and decision trees integrating spanning read support, flanking-read ratios, allele dropout indicators, and confidence intervals.
  • Apply a wide range of bioinformatics algorithms and develop novel computational approaches.
  • Investigate assay limitations at the molecular level and define boundaries of clinical reporting.
  • Develop and optimize complex analysis pipelines based on deep knowledge of bioinformatics algorithms.
  • Architect production-grade Nextflow pipelines for whole-genome sequencing, including caller selection, annotation strategy (AnnotSV, Nirvana), and QC threshold design.
  • Lead bioinformatics proof-of-concept for sequencer transitions, including concordance analysis, metric comparison, GIAB benchmarking, and cost-benefit recommendations.
  • Drive improvements in accuracy, cost of goods sold (COGS), and turnaround time across the pipeline portfolio.
  • Establish quality control metrics and procedures to ensure data integrity across production pipelines.
  • Guide result interpretation and reporting standards in collaboration with clinical and commercial stakeholders.
  • Set QC thresholds for new sample metrics and make production-impacting recommendations.

Minimum Qualifications:

  • Ph.D. in bioinformatics, computational biology, genetics, or computer science.
  • 3 or more years of experience in biotechnology
  • 5 or more years of experience in programming languages in bioinformatics, such as Python, R, Perl, or Java.

Preferred Qualifications:

  • 5 or more years of experience with high-throughput sequencing data and bioinformatics tools like BLAST, GATK, or Bowtie.
  • 5 or more years of experience with Linux/Unix environments and high-performance computing (HPC) or cloud platforms.

Additional Job Standards:

  • Abil…
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