Join a growing bioinformatics team at Aspen Neuroscience! We are seeking a Computational Scientist I who will be responsible for processing and curating large in-house and public NGS data sets. The position will support pre-clinical and clinical studies at Aspen by: (1) Operating and maintaining the onsite high performance NGS analysis tools (2) generating reports on WGS results from somatic and germline comparisons (3) generate reports based on RNAseq data and (4) work closely with QC/QA to create and maintain official genomics SOP documentation. Tap into your collaboration skills by working closely with other members of the Bioinformatics team and cross functionally with team members in Research & Development and Manufacturing, including senior laboratory personnel and project managers. This position is a remote/hybrid position with the candidate needing to live within the San Diego County area for occasional office visits.
Duties and Responsibilities
- Directly analyze exome and genome data for identification of disease-causing variants, using existing and newly developed analysis tools.
- Assess, maintain, and improve variant annotation and filtration capabilities.
- Present results and progress at regular team meetings.
- Support data quality review and release of data.
- Support software development and validation of new clinical assays (aka pluritest updates -> Docker).
- Involvement in abstract, figure, and manuscript preparation and submission, and presentations at local or national professional conferences.
- May perform other duties as assigned.
Education and Experience
- Minimum Master’s Degree in Genetic Counseling/Human Genetics/Genomics. PhD preferred. ASCP accreditation a plus.
- Experience working with genomic case analysis and variant classification for germline disease using ACMG/AMP guidelines; somatic cancer testing experience a plus.
- Experience using cloud-based computing a plus. Some experience in Python, R, and Unix would be advantageous.
- Development to commercialization.
- Ability to use standard bioinformatics tools (Samtools, BCFtools, BWA, GATK, Picard, BEDtools, PLINK).
- Thorough understanding of human genetics and next-generation DNA sequencing.
- Fundamental to this position are computer programming skills and a successful track record in using bioinformatics skills to address biological problems.
- Detail orientated with excellent problem-solving ability.
- Excellent written and verbal communication skills with expertise in documentation and visual presentations.
- Excellent organization and time management skills.
- Highly collaborative and able to work well in a team.
- Desire to contribute to a fast paced, exciting work environment
EEO and Employment Eligibility
Aspen Neuroscience is committed to providing equal employment opportunities to all employees and job applicants and prohibits discrimination and harassment of any type. We are committed to creating an inclusive environment for all employees.
Total Rewards and Culture
Aspen Neuroscience, Inc., located in scenic Torrey Pines, is noted for its collaborative and learning focused culture where each person is valued for contributing their strengths and energy to building a world-class line of products for patients in need. The company offers a competitive total compensation package, time-off in addition to Company observed holidays, Medical/Dental insurance benefits, gym membership, and other wellness perks.