Bioinformatician I Institute for Genomic Health

The Bioinformatician I manages and organizes large databases and conducts statistical and genomic analysis. Uses software to gather store manipulate and analyzes research data.

The Bioinformatician I will work with a group of researchers/biologists on innovative genomic analyses of structural variation epigenetics and gene expression in an integrated environment combining experimental and bioinformatics approaches to human disease. The individual will support research projects by delivering bioinformatics services for bio-medical data from cutting-edge genomic technologies

The ideal candidate will have strong statistical and programming proficiencies with proven expertise in genomic analysis.

We are inviting applications for a Bioinformatician Scientist position in biomedical data science with a specific interest in applications to electronic health records (EHR) and genomics. The Lab is an interdisciplinary group with diverse but interlinked research interests related to biomedical data science and machine learning methodology development. This position is funded through flexible but stable mechanisms and thus can potentially be extended in the longer term. Depending on candidate interests there will be opportunities to work on internally funded curiosity-driven projects as well as structured grant-funded projects. The position will be situated at the Institute for Genomic Health (IGH) at the Icahn School of Medicine at Mount Sinai in Manhattan New York NY USA. IGH aims to close the gap between genomic research and healthcare through discoveries and algorithms focused on diverse populations.

The Lab is interested in the extraction of genetic disease-related information from EHRs and its integration with genomic molecular and other clinical data sets to build better cohorts for variant discovery and aid in the timely diagnosis of patients in the clinic. We develop data science methods to identify patients with rare genetic diseases from their health records and genetic testing reports. We also collaborate with other labs at IGH to develop phenotypic risk scores using information from the Mount Sinai Million biobank and EHRs.Data resources include (a) Access to >12 million patient records in the Mount Sinai Data Warehouse and (b) The Mount Sinai Million Biobank Program with >60000 patients with whole exome sequencing data linked to longitudinal clinical data. Mount Sinai also houses Minerva a world-class high-performance computing resource with specifications that include over 2 petaflops of compute cores and nearly 90 GPU cores among others.

• Writes custom scripts for analysis of genomic data derived from high-throughput techniques.
• Designs and implements bioinformatics tools and processes in order to analyze large scale datasets.
• Identifies and resolves technical issues and proposes upgrades to current software.
• Develop projects and work independently on a variety of bioinformatics analysis projects.
• Manages databases conducts statistical and genomic analysis and participates in the preparation of manuscripts and presentations.
• May be involved in sequence and structural analysis data mining or statistical modeling.
• May collaborate with wet-bench biologists and work independently to analyze data derived from several types of projects using microarrays and high-throughput sequencing.
• May conduct analysis of microarray and high-throughput sequencing data genome sequence analysis experimental design and statistical analysis.
• May give presentations both inside and outside of the institution.
• Other related duties as assigned.

• B.S. in Biological Sciences Bioinformatics Computer Sciences Statistics or related discipline; M.S. preferred
• 3 years experience required
• Working experience with genetics or statistics analysis software and online resources. Experience in programming environments such as Matlab R statistical package BioConductor Perl or C.

Desired qualifications include:

• Familiarity with standardized vocabularies and ontologies such as UMLS and HPO

• Working knowledge of modern web service and/or software implementation

• Familiarity with HIPAA and data governance in large healthcare systems