Bioinformatics, Biostatistics & Medical Informatics

imageMassive amounts of data are being generated for biomedical research purposes using ultra-high-throughput assays and technologies, such as gene expression microarrays, proteomics platforms, high-throughout sequencing technologies and imaging devices. This wealth of information, especially when combined with medical record databases and other clinical and epidemiological data, create unprecedented opportunities in translational research.

Informatics helps scientists to make sense of all this data and thereby plays a critical role in expediting the application of research findings from the bench to the bedside.

The STSI has developed rigorous and comprehensive informatics and data analysis strategies and resources for translational research. The institute’s expertise and capabilities in informatics are summarized below. To obtain more information, investigators may use the online form.

Bioinformatics

The STSI’s bioinformatics resources are used to further the institute’s collaborations, in-house data analyses, training of researchers and novel methods of development in all areas of quantitative science essential to translational research. At the STSI, bioinformatics is applied primarily to genomics research, expecially studies involving large-scale DNA sequencing.

STSI researchers consult and collaborate with investigators about:

  • Sequence analysis and variant detection from next-generation sequencing data.
  • Phenotype association analysis of genome-wide and candidate gene sequencing and genotyping studies.
  • Assay design for directed high-throughput sequencing studies.
  • In silico functional analysis of variant data.
  • SNP and candidate gene selection for genotyping and sequencing studies.
  • Development of genomic data management and analysis tools and techniques.

For more information:

Brief bio of Ali Torkamani, Ph.D., Assistant Professor at STSI.

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Biostatistics & Study Design

The STSI’s biostatistical support team is collaborating with investigators at The Scripps Research Institute, Scripps Health physicians and researchers at the West Wireless Health Institute to develop statistical methodologies aimed at clinical investigations, and in particular individualized medicine studies, while bringing wireless technology to the forefront of medical care.

Current projects include the design of gene-based and “N-of-1” clinical trials (including a N-of-1 investigation on hypertension) and a validation study on the “pocket-mobile-echo” as a quick screening alternative to trans-thoracic echocardiography.

STSI researchers consult and collaborate with investigators about:

  • General biostatistical analysis including multivariate analysis.
  • Clinical trials design and analysis.
  • Population science, including epidemiology, population genetics, risk profiling
  • Power and sample size calculations.

For more information:

Brief bio of Nik Schork, Ph.D., Professor, TSRI and Director of Research, STSI.

Scripps Translational Science Institute
Ph: (858) 554-5708
Email: [email protected]