Genome Analysis

Genome Analysis Illustration

The Genome Analysis group of the Department of Biomedical and Health Informatics develops and applies its extensive bioinformatics analysis capabilities to enable, enhance, and empower research and clinical application at The Children's Hospital of Philadelphia.

Next Generation Sequencing/Whole Genome Array Analysis

DBHi has led efforts in the analysis of whole genome arrays by developing a strong infrastructure and knowledgebase (e.g., CNV Database, CNV Workshop, custom analysis algorithms, and applying those tools to identify robust biomarkers of pediatric disease.

  • Assembly and alignment
  • SNP and haplotype detection
  • Structural variant identification
  • Linkage to EHR-based phenotypes
  • Functional analysis of genotypes and variant regions

Expression Array Analysis

DBHi supports the analysis of expression array data from multiple manufacturers and technologies. In addition to providing outputs from appropriate multivariate statistical tests and visualizations, the Genome Analysis group applies its knowledge of molecular pathways and gene function to provide both a statistical and biological basis of significance.

  • Normalization and summarization
  • Significance Testing
  • Predictive modeling and classification
  • Pathway and ontology enrichment

Comprehensive Functional Genomics

The Genome Analysis group offers analyses for traditional nucleic acid and protein sequence data, scripting and coding, and supports bioinformatics training and education. We also offer a variety of services that support more basic elements of bench research, including:

  • Grant preparation
  • Study design
  • Data quality assessment