High-throughput genetic assays are commonly used to study the molecular basis of disease and such technology requires sophisticated data analysis methods that account for significant biological and experimental complexity. Specialized methods will be developed in free public software that will greatly benefit future genetic profiling studies.
Novel Bioinformatics Methods For Prioritizing Disease-causing INDELs
Funder
National Health and Medical Research Council
Funding Amount
$351,664.00
Summary
This project will build a bioinformatics diagnostic tool for the detection of small insertions and deletions (INDELs) in the human genome, which are the second most abundant class of human genetic variations. INDELs are implicated in many human diseases. Thus, the assessment of INDELs is critical for understanding disease etiology, disease susceptibility, and for interpreting personal genome sequencing data. The goal is to improve disease diagnosis and prevention.