About
The Alabama Genomic Health Initiative (AGHI) is a statewide effort to use the power of genomic analysis to identify people and populations who are at risk for genetic diseases. The program is aimed at preventing and treating disease, including certain types of cancer, heart problems, and genetic disorders. AGHI provides genomic testing, interpretation, and counseling free of charge to residents in each of Alabama’s 67 counties. The AGHI also includes a major focus on research, through which data from test results will be used to advance scientific understanding of the role that genes play in health and disease.
Variant data is available for each AGHI participant. This statewide population data can be used by investigators to further their research on their chosen disease/gene.
This variant data comes from either the Illumina Infinium Global Screening Array (GSA) chip or whole genome sequencing (Illumina platforms). If the patient is in the UAB Health System database, then their EHR information can also be retrieved.
Biospecimens (i.e. blood) from these participants can also be obtained for further research from the UAB Biobank.
How to Use AGHI Data
Information about AGHI use cases is coming soon.
How to access the AGHI data?
Search i2b2 for patients/diseases and then identify those who have AGHI data. After obtaining IRB approval, contact Matt Wyatt, Dale Johnson, and David Crossman to obtain the patient records and variant information.
The raw variant data will need to be further processed (i.e. normalized, removal of false positives, etc.) and analyzed by the user. Check out the Analysis Gateway for tools that may assist with analyzing this data. To obtain biospecimens, please fill out this form (form is coming soon).
AGHI Variant Data
Variant data is available for each AGHI participant. This statewide population data can be used by investigators to further their research on their chosen disease/gene.
This variant data comes from either the Illumina Infinium Global Screening Array (GSA) chip or whole genome sequencing (Illumina platforms). If the patient is in the UAB Health System database, then their EHR information can also be retrieved. Biospecimens (i.e. blood) from these participants can also be obtained for further research from the UAB Biobank.
