Compensation:

$95,000 - $130,000 per year. You are eligible for a Short-Term Incentive Plan with the target at 5% of your annual earnings; terms and conditions apply.

Scientist II, Research & Development – Remote US

This position is responsible for initiating the development and managing the progress of analytic pipelines for multiple assays/tests. This role will support the analysis of NGS/LRS data from unexplained rare disease cases, such as intellectual disability and other neurological disorders. The position will evaluate relevant literature, research data, new technologies, and software programs to support new assay development and analysis at Ambry.   

Essential Functions

• Lead the development of interpretation pipelines for new tests with existing or novel methods; e.g., next generation sequencing, long read sequencing, transcriptomics, etc 

• Supervise and coordinate projects with R&D team members and employees from other departments 

• Serve as author of publications. Perform data analysis and compilation for publications 

• Assist in troubleshooting of problems with research analytic pipelines. Devise solutions to overcome technical issues 

• Research and assess new technologies, and software for potential implementation in new assays or for budgetary savings or expansion of existing tests 

• Other duties as assigned  

Qualifications

• M.D. or Ph.D. in molecular biology, biomedical sciences, bioinformatics, or related field 

• 2+ years of postdoctoral training plus professional experience 

• Strong knowledge of molecular biology, cell biology, biochemistry, genetics, bioinformatics, and assay interpretation 

• Strong knowledge in HGVS nomenclature and ACMG/AMP variant interpretation guidelines 

• Strong background in Rare Diseases or other fields covered by Ambry diagnostic tests 

• Capable of excelling within a team environment 

• Capable of assigned workload and additional projects with minimal supervision 

• Ability to communicate effectively, maintain a high level of organization, and to prioritize efficiently

• Ability and desire to work in fast-paced environment 

• Extensive molecular and cellular biology skills demonstrated through multiple publications 

• Proficient with a broad range of analytic and informatics techniques and data acquisition 

• Familiarity with bioinformatics pipelines for sequencing data, including quality control, alignment to reference genome or de novo assembly, variant calling, annotation, and filtering 

• Strong bioinformatics skills including proficiency with high performance computing and cloud computing platforms such as AWS and scripting languages such as Python or R

• Knowledge of database design and maintenance including applications of structured query language

• Ability to read and interpret documents, operating and maintenance instructions, and procedure manuals 

• Ability to write routine reports and correspondence 

• Ability to speak effectively one-on-one and in group settings with clients, vendors, and employees of the organization 

• Proficient in Word, Excel, sequencing software, and other software programs used by Ambry 

#LI-CB1 #LI-REMOTE

PRIVACY NOTICES

To review Ambry’s Privacy Notice, Click here:  https://www.ambrygen.com/legal/privacy-policy

To review the California privacy notice, click here: California Privacy Notice | Ambry Genetics

To review the UKG privacy notice, click here: California Privacy Notice | UKG

Equal Opportunity Employer

This employer is required to notify all applicants of their rights pursuant to federal employment laws. For further information, please review the Know Your Rights notice from the Department of Labor.