Bioinformatics Research Assistant

Job Summary

The Uterine Health Research Lab in the Department of Obstetrics and Gynecology is seeking an experienced Bioinformatics Research Assistant who will support research exploring the utility of the vaginal microbiome individually and in combination with cell-free DNA and DNA methylation markers, for improved screening and detection of endometrial cancer. The successful candidate will assist in analyzing high throughput sequencing data, focusing on single nucleotide variant (SNV) calling, benchmarking tools, and generating performance metrics. This position provides hands-on experience in computational genomics, reproducible research workflows, and literature-driven problem solving.

Organizational Status
The Uterine Health Research Lab is conducting ongoing research studies aimed at improving the prevention and early detection of gynecologic pathologies. The Bioinformatics Research Assistant will work under the supervision of the principal investigator (PI) to fulfill research-related responsibilities in a professional and ethical manner. The research team is also part of the BC’s Gynecologic Cancer Initiative, which is a world-leading, interdisciplinary team working together to drive innovative research that transforms how we prevent, diagnose, treat and improve survivorship care for people with gynecological cancer.

Work Performed
The individual will work in collaboration with Dr. Aline Talhouk’s research team with the following key responsibilities:

· Assist in processing and quality-controlling high-throughput sequencing data, including read trimming, alignment, sorting, indexing, duplicate marking, and base quality score recalibration.

· Perform SNV calling and microbiome profiling from sequencing data using established bioinformatics pipelines.

· Benchmark variant calling tools by comparing performance, accuracy, and computational efficiency.

· Leverage databases and statistical tools to filter SNVs.

· Assist in generating and interpreting metrics to assess tool performance and data quality.

· Conduct literature reviews to identify best practices, tools, and methods relevant to the project.

· Assist in developing and maintaining reproducible analysis workflows using Bash and Snakemake.

· Document analyses and results clearly for both internal use and potential publications.

· Delegate responsibilities to undergraduate students and other junior members of the lab, providing guidance on bioinformatics pipelines protocols and reproducible workflows.

· Compile and interpret results and prepare a report of statistical findings.

· Attend team meetings and 1-on-1 meetings with the principal investigator and senior lab staff.

Consequence of Error/Judgement
The Bioinformatics Research Assistant will be granted substantial independence in their role and must demonstrate exceptional judgment, responsibility, and initiative in conducting data analysis and ensuring the successful and timely completion of tasks.

Supervision Received
The Bioinformatics Research Assistant will report to Dr. Aline Talhouk.

Supervision Given
The Bioinformatics Research Assistant may help to supervise undergraduate students.

Minimum Qualifications
High school graduation, some additional training in a related field and a minimum two years of related experience or an equivalent combination of education and experience.

- Willingness to respect diverse perspectives, including perspectives in conflict with one’s own

- Demonstrates a commitment to enhancing one’s own awareness, knowledge, and skills related to equity, diversity, and inclusion

Preferred Qualifications

- Undergraduate in bioinformatics, computational biology, computer science, molecular biology, or related fields

- Foundational knowledge of genomics and bioinformatics concepts, particularly SNV calling using Mutect2, Strelka, LoFreq.

- Strong command of Bash scripting and experience with workflow management tools such as Snakemake.

- Ability to critically read and interpret scientific literature.

- Experience benchmarking computational tools and interpreting performance metrics.

- Clear written and verbal communication skills to document findings and present results, and strong attention to detail.