Diagnosis of Inherited Genetic Disorders Using DNA Reference Standards [ 2018 - 2020 ]

Research Grant

Researchers: A/Pr Marcel Dinger (Principal investigator) ,  A/Pr Timothy Mercer ,  Dr James Blackburn ,  Prof Leslie Burnett

Brief description Whole genome sequencing can diagnose mutations that cause inherited disease, however, errors during sequencing and analysis can result in incorrect diagnosis. We propose to develop synthetic DNA standards that mirror important disease-associated mutations. These DNA standards are then added directly of a patient DNA sample and act as internal controls during sequencing and analysis to provide more accurate and reliable diagnosis.

Funding Amount $AUD 700,490.97

Funding Scheme Project Grants

Notes Standard Project Grant