Synthetic DNA Standards for Clinical Genome Sequencing [ 2018 - ]

Research Grant

Researchers: A/Pr Timothy Mercer (Principal investigator) ,  Prof David Thomas (Principal investigator) ,  A/Pr Marcel Dinger

Brief description 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.

Funding Amount $870,005.00

Funding Scheme Development Grants

Notes Development Grant