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Untangling the mystery of birth defects

Embryology Laboratory - Victor Chang InstituteWhile the diagnosis of birth defects in utero continually improves, the task of eradicating them entirely requires an understanding of the complexity of their formation. Advancements in genetic sequencing and the field of computer-based analysis of genomes – bioinformatics – are opening up new possibilities in this space.

Professor Sally Dunwoodie, head of the Embryology Lab at the Victor Chang Cardiac Research Institute, has dedicated years to untangling the mystery behind the genetics of birth defects. Her research has discovered eight previously unknown gene mutations that lead to various congenital spine and heart defects. Most recently, her team has shown that niacin supplementation can prevent some congenital malformations in mice.

By sorting through the genetic sequences from over 300 individuals, Professor Dunwoodie was able make comparisons between them all and identify the key mutations. Getting the sequences to that stage required the use of computational resources from NCI’s supercomputer. Turning the raw data that comes from a sequencer into useable sequences ready for scientific analysis requires a series of computational steps that clean and prepare the genetic data.

To get over 300 sequences analysed, Professor Dunwoodie says, “There is absolutely no way we could have done it without NCI. Having access to this facility, with the high-performance resources and expert support available, is incredibly important to us.”

As well as preparing the sequences, NCI also helps to store the data long-term. Until now, the research has focused on only 2% of the entire available sequence, meaning that there remains 98% of this genomic data to be explored. Future research will be able to revisit and analyse those datasets from a different angle. Professor Dunwoodie and the Victor Chang Institute are counting on having reliable storage at NCI for years to come.

In the future, Professor Dunwoodie says, “We will be even more reliant on NCI to store and analyse all the data we produce.” As the number of sequences in the database grows, and as the complexity of the analysis increases, high-performance computing and data storage will play an even bigger role in the genomic research process.

Professor Dunwoodie’s study on niacin’s protective effect in mice provides a good example of the impactful research outcomes derived from NCI’s supercomputing capability.

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