Biotechnology Associate , DNA Diagnostics Laboratory

Department:
Genetics - Clinical

Working at Yale means contributing to a better tomorrow. Whether you are a current resident of our New Haven-based community, eligible for opportunities through the New Haven Hiring Initiative, or a newcomer, interested in exploring all that Yale has to offer, your talents and contributions are welcome. Discover your opportunities at Yale!

Overview

The DNA Diagnostics Laboratory is a CLIA-certified, CAP-accredited clinical genetics laboratory in the Department of Genetics at Yale School of Medicine. Sitting inside an academic medical center, we work in close contact with the clinicians we serve, which shapes how we interpret, report, and follow up on every case. Accuracy, turnaround, and patient care drive everything we do. In addition, collaboration with basic science faculty in grant-supported research is a regular function of the lab.

You will work alongside physician-scientists and laboratory directors in an academic medical center, with real latitude to shape how the laboratory's diagnostic capabilities develop. The role offers exposure to a wide variety of clinical case types and cutting-edge clinical and translational research across the Department of Genetics and the wider Yale School of Medicine.

General activities:

• Provide ongoing support and maintenance for clinical bioinformatics systems and pipelines for processing high-complexity human genetic data, ensuring operational stability, accuracy, and efficiency.
• Work closely with clinical stakeholders to define, design, and deploy enhancements and new system capabilities based on user feedback and evolving clinical requirements.
• Ensure all production updates and improvements comply with regulatory and quality standards (CLIA, CAP, etc.) and are appropriately documented and validated.
• Submit the lab’s variant classifications to the Clin Var database.

Specific projects:

• Develop a Clinical Genomic Data Repository that places de-identified whole-exome and whole genome data into a platform that can be queried by collaborating research scientists. Serve as the point person for requests for data.
• Develop a relational database for maintaining gene lists and update the database with help from genetic counselors and directors.
• Translate R&D innovations in long-read sequencing and RNAseq into production-ready tools for clinical diagnostics.
• Develop an automated pipeline that updates classification of previously reported variants and alerts the referring health care provider of any change in variant classification.
• Develop and validate bioinformatic tools for detecting mosaicism, including both SNVs and CNVs/chromosomal gains and losses.
• Other projects as directed.

The maximum of the salary grade 24 can be reviewed here:
Wage Ranges | It’s Your Yale . However, compensation will be determined based on the selected candidate's education, experience, qualifications, internal equity, and departmental budget considerations.

Required

Skills and Abilities

1. Proven experience in bioinformatics, computational genomics, or computational biology, including hands-on work with large-scale NGS datasets.

2. Exceptional attention to detail, the judgment to own your work while supporting a team that depends on one another.

3. Demonstrated ability to drive several projects forward at once.

Preferred

Skills and Abilities

1. PhD degree in a related field such as chemistry, biology, biochemistry, computer science or bioinformatics with additional years of experience or equivalent education and experience.

2. Demonstrated experience in designing and building internal data dashboards to track operational workflows, laboratory throughput, and key performance indicators (KPIs).
3. Familiarity with…