Sema4 Genomics is seeking a talented, self-motivated individual to participate in leading edge research in translational bioinformatics as a member of the R&D bioinformatics group. The successful applicant will be part of an interdisciplinary team that develops and applies computational methods and databases for personalized diagnosis and therapy of human Mendelian diseases and cancers. This includes the application of machine learning, artificial intelligence and advanced statistical techniques to analyze large scale genetics and biomolecular datasets as well as third party databases. Additional knowledge is extracted from the biomedical literature via natural language processing techniques. This work will also play a role in developing systems for integrating novel informatics and genomic tools and methodologies into clinical practice.
DUTIES AND RESPONSIBILITIES:
- Develop and implement text mining and machine learning methods to analyze literature for genetic variant recognition, variant normalization, understanding the functional impact of genetic variants, and identifying variant-disease associations.
- Analyze high-throughput genetic data including whole genome, whole exome, and genome-wide genotyping data. Integrative analysis of genetic data and clinical data to understand genetic risks, disease mechanisms, and drug response.
- Develop and maintain collaborations both within the company and with outside researchers in academia and industry.