Bioinformatics Lead

Job Description Summary

Bioinformatics Lead, ctDNA Sequencing & Translational Genomics

Location: Charleston, SC, Medical University of South Carolina (MUSC), (hybrid/remote may be considered for exceptional candidates)

Entity

Medical University of South Carolina (MUSC - Univ)

Worker Type

Employee

Worker Sub-Type​

Faculty

Cost Center

CC001058 COM Radiation Oncology

Pay Rate Type

Salary

Pay Grade

University-00

Pay Range

0.00 - 0.00 - 0.000

Scheduled Weekly Hours

40

Work Shift

Job Description

Position Summary

We are recruiting a Bioinformatics Lead to build and continuously improve the computational analysis platform supporting high-sensitivity circulating tumor DNA (ctDNA) assay development and translational clinical research. This role will support NGS data processing, quality control frameworks, error suppression, variant detection, and reporting across tumor-informed and tumor-naïve workflows. The successful candidate will work closely with wet-lab scientists and clinicians to enable rapid iteration, reproducibility, and scalability, with an emphasis on ultra-low allele fraction detection and rigorous translational study support.

Key Responsibilities

Pipeline development and analysis support

• Develop and maintain computational workflows supporting ctDNA-focused targeted sequencing analyses.

• Implement robust quality control metrics, acceptance criteria, and failure triage processes for high-depth sequencing runs.

• Generate analysis outputs and summaries to support translational studies, manuscripts, and grant applications.

• Contribute to continuous improvement of analytic performance (sensitivity/specificity) for ultra-low VAF detection and MRD-related applications.

Translational collaboration

• Partner with wet-lab and clinical teams to align assay design, sample processing, and analytic outputs; participate in troubleshooting and iterative optimization.

• Support study design discussions, analytic endpoint definitions, and interpretation of results for translational research programs.

Data stewardship

• Support best practices for data governance, provenance, documentation, and reproducibility in handling human genomic data.

• Work with institutional resources to implement secure computational environments and appropriate data access practices.

Mentorship and program growth

• Mentor junior analysts as the program grows; contribute to hiring, onboarding, and training as needed.

• Help establish standards for analytic workflows, documentation, and communication across the research team.

Required Qualifications

• PhD in Bioinformatics, Computational Biology, Genetics/Genomics, Computer Science, Biostatistics, or related field; or MS with substantial relevant experience (track/title commensurate with credentials).

• Demonstrated experience analyzing ctDNA NGS data, including ultra-low allele fraction detection and/or MRD-related workflows.

• Strong NGS fundamentals: alignment, variant calling, QC, annotation, and interpretation-ready output generation.

• Proficiency in Python and/or R; strong comfort with Linux/Unix environments.

• Experience implementing reproducible analytic workflows and maintaining code in collaborative environments (e.g., version control).

• Track record of delivering robust pipelines used repeatedly for real datasets (not one-off scripts).

• Strong communication skills and ability to operate effectively in a multidisciplinary translational environment.

Preferred Qualifications

Any of the following (or similar) would be a plus:

• Method development experience related to error suppression, background error modeling, consensus approaches, or sensitivity/specificity benchmarking for ultra-low VAF detection.

• Experience designing computational validation plans (e.g., precision/recall, LOD, reproducibility) and supporting assay/pipeline iteration.

• Experience with FFPE tumor tissue sequencing analysis and variant calling (or similar challenging specimen types with artifact-aware calling and QC).

• Familiarity with HIPAA-aligned compute environments and practices for handling human genomic data; experience with secure cloud environments (AWS/GCP/Azure).

• Experience working in or alongside clinical genomics settings and documentation practices supportive of eventual clinical validation.

• Experience mentoring analysts/engineers and/or leading pipeline development across multiple projects.

Application Instructions

Please submit:

• CV

• Brief cover letter describing ctDNA/NGS analysis experience and role-fit

• (Optional) Link to code samples or repositories demonstrating relevant workflow/pipeline work

• (Optional) Contact information for 3 references

Additional Job Description

Physical Requirements: (Note: The following descriptions are applicable to this section: Continuous - 6-8 hours per shift; Frequent - 2-6 hours per shift; Infrequent - 0-2 hours per shift) Ability to perform job functions in an upright position. (Frequent) Ability to perform job functions in a seated position. (Frequent) Ability to perform job functions while walking/mobile. (Frequent) Ability to work indoors. (Continuous) Ability to work outdoors in all weather and temperature extremes. (Infrequent) Ability to work in confined/cramped spaces. (Infrequent) Ability to perform job functions from kneeling positions. (Infrequent) Ability to squat and perform job functions. (Infrequent) Ability to perform 'pinching' operations. (Infrequent) Ability to fully use both hands/arms. (Frequent) Ability to perform repetitive motions with hands/wrists/elbows and shoulders. (Frequent) Ability to reach in all directions. (Frequent) Possess good finger dexterity. (Continuous) Ability to maintain tactile sensory functions. (Continuous) Ability to lift and carry 15 lbs., unassisted. (Infrequent) Ability to lift objects, up to 15 lbs., from floor level to height of 36 inches, unassisted. (Infrequent) Ability to lower objects, up to 15 lbs., from height of 36 inches to floor level, unassisted. (Infrequent) Ability to push/pull objects, up to 15 lbs., unassisted. (Infrequent) Ability to maintain 20/40 vision, corrected, in one eye or with both eyes. (Continuous) Ability to see and recognize objects close at hand. (Frequent) Ability to see and recognize objects at a distance. (Frequent) Ability to determine distance/relationship between objects; depth perception. (Continuous) Good peripheral vision capabilities. (Continuous) Ability to maintain hearing acuity, with correction. (Continuous) Ability to perform gross motor functions with frequent fine motor movements. (Frequent)

If you like working with energetic enthusiastic individuals, you will enjoy your career with us!

The Medical University of South Carolina is an Equal Opportunity Employer. MUSC does not discriminate on the basis of race, color, religion or belief, age, sex, national origin, gender identity, sexual orientation, disability, protected veteran status, family or parental status, or any other status protected by state laws and/or federal regulations. All qualified applicants are encouraged to apply and will receive consideration for employment based upon applicable qualifications, merit and business need.

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