Job DescriptionThe Associate Bioinformatician manages and organizes large biomedical databases and conducts statistical, genomic, and phenotypic analyses using biobank and electronic health record (EHR) data. Uses computational tools and software to gather, store, manipulate, and analyze research data related to rare genetic diseases. The Associate Bioinformatician will work with a multidisciplinary team of researchers, clinicians, and geneticists on innovative approaches to phenotyping rare genetic disorders using genomic data, EHRs, and population biobanks. The individual will support research projects focused on improving understanding of disease presentation, progression, and genotype-phenotype relationships through integrated computational and clinical data analysis. The ideal candidate will have strong statistical and programming proficiencies with proven expertise in genomic analysis, biomedical data science, and analysis of large-scale clinical and genetic datasets.
Responsibilities- Designs and implements bioinformatics tools, pipelines, and analytical workflows.
- Identifies and resolves technical issues and proposes improvements to existing software and analysis methods.
- Develops and independently manages a variety of bioinformatics and biomedical data analysis projects.
- Manages large clinical and genomic databases, conducts statistical and genomic analyses, and contributes to manuscripts and presentations.
- May be involved in phenotype extraction, data mining, machine learning, and statistical modeling using EHR and biobank data.
- May collaborate with clinicians, geneticists, and researchers to analyze genomic and clinical data from rare disease research projects.
- May conduct analysis of genomic sequencing, EHR-linked biobank datasets, experimental design, and statistical analysis.
- Other related duties as assigned.
Qualifications- B.S. in Biological Sciences, Bioinformatics, Computer Sciences, Statistics or related discipline. M.S. in related field preferred.
- Minimum 1 year of experience in research environment, 2-3 years preferred
