Diagnosis of Inherited Genetic Disorders Using DNA Reference Standards

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/GNT1139107

Funding Status
Closed

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Funded Activity Summary

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.

Funded Activity Details

Start Date: 01-01-2018

End Date: 01-01-2020

Funding Scheme: Project Grants

Funding Amount: $690,820.00

Funder: National Health and Medical Research Council

Research Topics

ANZSRC Field of Research (FoR)

Genomics

ANZSRC Socio-Economic Objective (SEO)

There are no SEO codes available for this funding activity

Other Keywords

diagnosis | genetic disorders | genetic variation | inherited | sequencing

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