Gene Analysis Core

PROJECT SUMMARY
The overall goal of the Gene Analysis Core of the Digestive Health Center (DHC) is to provide DHC
investigators with fully integrated services to catalyze research on genetics and genomics using advanced
instrumentation, reliable protocols, and knowledge for experimental planning and execution. The Core pursues
this goal with four complementary aims. In the First Aim “to develop an integrated service structure for studies
on gene sequence and function,” the Core integrates a comprehensive portfolio of services into one
operational unit with a shared leadership of laboratories that provide gene-based assays and expert
bioinformaticians and protein quantification technologies. This structure facilitates consultation and service
requests by DHC investigators, with well-defined processes for service request, monitoring of progress, and
data sharing. In the Second Aim “To generate genomics data using cutting edge assays to assess gene
sequence and function,” the Core makes available to DHC investigators streamlined. In the Third Aim “to
provide bioinformatics consultation and analysis for genetics and genomics studies,” the Core gives members
opportunities for the optimization of experimental design, technology selection, bioinformatics, and functional
annotation of the large datasets produced by the Gene Sequence and Expression Laboratories.
Bioinformaticians use refined workflows and computational approaches to fully integrate data from orthogonal
technologies, develop improved metadata standards for application in digestive disease datasets at multiple
levels of granularity, and provide new solutions for data access and exploration. Bioinformaticians personalize
analytical pipelines to meet the investigators’ needs using powerful computing cluster environment and in a
secured fashion by industry-quality firewall systems. And in the Fourth Aim to “enable the validation of gene
expression at the protein level,” the Core offers investigators the opportunity to validate at the protein level the
expression of gene and gene groups using complementary assays in body fluids, cell surface, and intracellular
environment. The service portfolio managed by the Gene Analysis Core has been highly subscribed by DHC
investigators and has been linked to a high scientific output in peer-reviewed original publications that are
relevant to digestive disease.

Grant Number: 5P30DK078392-19
NIH Institute/Center: NIH
Principal Investigator: Bruce Aronow