Synthetic DNA Standards for Clinical Genome Sequencing

Funding Activity

Website
http://purl.org/au-research/grants/nhmrc/GNT1136067

Funding Status
Closed

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Funded Activity 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.

Funded Activity Details

Start Date: 01-01-2018

End Date: 01-01-2020

Funding Scheme: Development Grants

Funding Amount: $870,005.00

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

bioinformatics | genetic variation | genetics | mutation detection | sequencing

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