DBHi Bioinformatics Resources

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Linkage to EHR-based Phenotypes

DBHi's comprehensive informatics scope includes both genome analysis and electronic health record (EHR) access, enabling seamless translational research by integrating genotype and phenotype data. Our Data Reporting and Management group provides honest broker and data integration services such that clinical and research data of any type can be combined within a compliant framework.

Biomarker Discovery

At the core of genome analysis lies biomarker discovery, the ability to identify associations between genetic alterations and disease, and to use this information to further explore individual genes in the context of their resident mechanisms and pathways.

The genome analysis team within DBHi has collaborated extensively with CHOP researchers to identify putative biomarkers of disease. Although we've contributed to dozens of projects in identifying putative biomarkers, our most notable contributions to date are in the areas of attention-deficit hyperactivity disorder (ADHD) and autism. In each case, the genome analysis team served as a core member of the research team to identify genetic associations not previously known.

Significance Testing

Genome-wide analyses such as that for CNV, SNP, and expression arrays offer an immense amount of data on an individual subject, resulting in rich data sets that are unfortunately subject to a high number of false positives using traditional methods of hypothesis testing. In addition to using the most appropriate statistical tests for your study design, the bioinformatics group is trained to modify results based on the most appropriate correction algorithm based on the researcher's tolerance for false positives and negatives.

These methods can additionally be applied to groups of genes to determine enrichment based on specific ontologies, pathways, or other prior knowledge, as shown in our recent analysis of synapse-related genetic associations in autism patients.