Clinical Bioinformatics Scientist
Color believes that everyone deserves access to high-quality information they can use to improve and maintain their health. We are transforming how clinical-grade genetic testing is done by removing financial, educational, and geographic barriers. Our goal is to expand physician-supported access to genetic testing to help every person, everywhere understand their risk for hereditary disorders.
Color’s heart is a CLIA/CAP, high-throughput, highly-automated, NGS-based clinical laboratory, in Burlingame, California. As a Clinical Bioinformatics Scientist, your primary responsibility will be to guard the quality of the variants included in our clinical reports. You will also help identify opportunities for improvement across our workflow, which involves collaboration with R&D and laboratory scientists, bioinformatics engineers and medical geneticists.
For those with less prior experience, this role will help you gain knowledge on a wide array of genomics technologies and bioinformatics approaches. For senior scientists with more clinical experience, this role will provide opportunities to identify and strategize core improvements to both our clinical platform and bioinformatics pipeline.
In this role, you will:
- Interpret complex NGS signals in genomic regions that are hard to sequence and/or represent complex rearrangements.
- Define suitable technologies for secondary confirmation of all variant types, and analyze the confirmatory results.
- Identify data features to further increase the specificity of our bioinformatics algorithms.
- Identify improvements to our internal tools that help increase productivity and reduce the chance of errors.
- Follow laboratory’s established policies and procedures, and document all corrective actions taken.
What we're looking for:
- Demonstrated attention to detail, while keeping a pragmatic attitude.
- Experience working with Next Generation Sequencing platforms, familiarity with common algorithms for NGS alignment and variant calling is a plus.
- Proficiency in at least one of the following languages: Python and R.
- Intrinsically motivated and able to execute independently, while being proactive about seeking input from colleagues.
- Ability to communicate effectively with people across many disciplines and experience levels.
- Preferred: experience with other molecular techniques (PCR, Sanger sequencing, aCGH, MLPA, etc).
- Preferred: familiarity with SQL databases (postgresql, bigquery), task management systems (Jira) and version control tools (GitHub).
- Preferred: knowledge of clinical genetics (common hereditary disorders).
Color is an equal opportunity employer. In accordance with anti-discrimination law, it is the purpose of this policy to effectuate these principles and mandates. Color prohibits discrimination and harassment of any type and affords equal employment opportunities to employees and applicants without regard to race, color, religion, sex, national origin, disability status, protected veteran status, or any other characteristic protected by law. Color conforms to the spirit as well as to the letter of all applicable laws and regulations.