Specific Aims

Mapping and Sequencing
- To provide multiple vertebrate sequence comparisons for HL&B genes
- To generate multiple primate sequence comparisons for 50 cardiovascular disease related genes

Comparative Genomic Informatics
- To develop comparative genomic tools for multiple-species sequence comparisons
- To build accessible computational tools for the analysis of sequence comparisons between multiple closely related species
- To develop Human Enhancer Database

In Vivo Regulatory Element Analysis
- To assess the activity of conserved noncoding elements in driving tissue expression patterns in transgenic mouse embryos
- To exploit the in vivo system for high throughput cis-regulatory identification

Clinical Re-Sequencing
- To identify mutations causing idiopathic HL&B congenital disorders by sequencing candidate genes in affected individuals
- To validate that putative variants identified in affected individuals as causative mutations in genetically engineered mice

Education and Outreach Programs
- To conduct 2 to 3 hands-on courses per year targeted at biomedical investigators on how to use computational genomic resources
- To publicize the databases and tools developed by the Berkeley PGA through abstracts and presentations at appropriate biomedical meetings
- To develop tutorials for the bioinformatic resources generated by the Berkeley PGA

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