Diagnosing Chromosomal Translocations In Solid Tumours
Funder
National Health and Medical Research Council
Funding Amount
$410,997.00
Summary
Mis-repair of broken chromosomes can fuse together genes that then cause cancer. Current clinical tests are only capable of detecting single well-known gene fusions and are incapable of identifying new fusion events or fusion variations. We have developed a diagnostic technology, termed CaptureSeq, that is capable of finding all fusion genes in a patient sample. In this grant, we will demonstrate the use and advantages of CaptureSeq for diagnosing fusion genes in cancer patients.
Synthetic DNA Standards For Clinical Genome Sequencing
Funder
National Health and Medical Research Council
Funding Amount
$870,005.00
Summary
Genome sequencing can diagnose a wide range of mutations that cause human disease. However, errors during sequencing and analysis can lead to incorrect diagnosis. We propose to develop synthetic representations of genetic mutations that are then added to a patient’s DNA sample and act as internal controls throughout the clinical sequencing workflow. These controls improve the accuracy and reliability of mutation detection, resulting in improved diagnosis and better-informed patient care.