Biomedical and Translational Informatics Laboratory


What is Biofilter ?

Biofilter provides a convenient single interface for accessing multiple publicly available human genetic data sources that have been compiled in the supporting database of the Library of Knowledge Integration (LOKI). Information within LOKI includes genomic locations of SNPs and genes, as well as known relationships among genes and proteins such as interaction pairs, pathways and ontological categories.Via Biofilter 2.0 researchers can:·

  • Annotate genomic location or region based data, such as results from association studies, or CNV analyses, with relevant biological knowledge for deeper interpretation.
  • Filter genomic location or region based data on biological criteria, such as filtering a series SNPs to retain only SNPs present in specific genes within specific pathways of interest.  
  • Generate Predictive Models for gene-gene, SNP-SNP, or CNV-CNV interactions based on biological information, with priority for models to be tested based on biological relevance, thus narrowing the search space and reducing multiple hypothesis-testing.

Why use Biofilter ?

Expanding resources of existing knowledge can be used to direct new analyses investigating the relationship between genetic architecture and outcome traits, provide more information for interpreting analysis results, and provide a way to explore complex interactions. Many different types of “-omic” analyses, such as genome-wide association studies (GWAS) or eQTL analyses, take a high-throughput association approach with the multiple hypothesis testing burden and potential for Type-1 error increasing with the number of SNPs and/or phenotypes/outcomes used in these studies. Existing expert-knowledge can be used to filter data in various ways before calculating associations, thus reducing the number of proposed tests and the multiple testing burden based on a biologically-driven rationale. Existing biological data can also be used to annotate results of high-throughput studies to provide further biological interpretation of genomic regions showing statistically significant associations. Further, methodologies that facilitate the exploration of models beyond those explored through the GWA approach are important for potentially explaining more of the heritability of complex traits. Biofilter is a software tool that provides a flexible way to use the ever-expanding expert biological knowledge that exists to direct filtering, annotation, and complex predictive model development for elucidating the etiology of complex phenotypic outcomes.

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