Statistical Methods for Discovering Ribonucleic acids (RNAs) contributing to human diseases and phenotypes. Identifying the causative genetic factors involved in quantitative phenotypes and diseases is a major goal of biology in the 21st century and beyond. A crucial step towards this goal is identifying and classifying the functional non-protein-coding Ribonucleic acids (RNAs) encoded in the human genome. This project will make major contributions to international efforts in this area by identi ....Statistical Methods for Discovering Ribonucleic acids (RNAs) contributing to human diseases and phenotypes. Identifying the causative genetic factors involved in quantitative phenotypes and diseases is a major goal of biology in the 21st century and beyond. A crucial step towards this goal is identifying and classifying the functional non-protein-coding Ribonucleic acids (RNAs) encoded in the human genome. This project will make major contributions to international efforts in this area by identifying RNA molecules that contribute to quantitative phenotypes including susceptibility to disease. As such, it will directly benefit fundamental science via the discovery and classification of new molecules. Indirectly, it will lead to breakthroughs in biology, and consequently to major medical and pharmaceutical advances in the diagnosis and treatment of genetic disease.Read moreRead less
The extent, causes and implications of pleiotropy among complex traits. The project seeks to understand how a DNA mutation can affect many characters or traits. Many traits are called complex because they are controlled by a very large number of genes, most of which have small effects. Complex traits include traits important in medicine (such as susceptibility to heart disease) and in agriculture (such as tenderness of meat). Because there are many genes affecting each trait, most genes have sma ....The extent, causes and implications of pleiotropy among complex traits. The project seeks to understand how a DNA mutation can affect many characters or traits. Many traits are called complex because they are controlled by a very large number of genes, most of which have small effects. Complex traits include traits important in medicine (such as susceptibility to heart disease) and in agriculture (such as tenderness of meat). Because there are many genes affecting each trait, most genes have small effects which makes them hard to identify. The fact that a mutation that has a small effect on a complex trait also has a larger effect on a less complex trait may help us to identify the mutation and use it in agriculture or medicine.Read moreRead less
Functional characterization of SSB2: a novel single-stranded DNA binding protein. Defects in the DNA damage response pathway underpin many human genetic disorders and diseases. A detailed understanding of this pathway has enormous implications for future medicine. The proposed research will lead to functional characterization of a new protein, identify new concepts in DNA damage repair pathways, train young researchers and place Australia among the leaders in this internationally significant and ....Functional characterization of SSB2: a novel single-stranded DNA binding protein. Defects in the DNA damage response pathway underpin many human genetic disorders and diseases. A detailed understanding of this pathway has enormous implications for future medicine. The proposed research will lead to functional characterization of a new protein, identify new concepts in DNA damage repair pathways, train young researchers and place Australia among the leaders in this internationally significant and highly competitive area of research. It will underpin the national research priority of Promoting and Maintaining Good Health and help Australia capitalise on a plethora of opportunities for future economic and health benefits.Read moreRead less
Prediction of phenotype for multiple traits from multi-omic data. This project aims to develop better methods for predicting traits in an individual based on their genome sequence. This method will be tested in agricultural animals and plants and in humans. The prediction formula is derived from a training dataset that has information on the traits and genome sequence of a sample of individuals. The prediction formula can then be applied to predict the trait in individuals where the trait is un ....Prediction of phenotype for multiple traits from multi-omic data. This project aims to develop better methods for predicting traits in an individual based on their genome sequence. This method will be tested in agricultural animals and plants and in humans. The prediction formula is derived from a training dataset that has information on the traits and genome sequence of a sample of individuals. The prediction formula can then be applied to predict the trait in individuals where the trait is unknown. This is useful for selecting the best parents for breeding in agriculture and for predicting the future phenotype of animals, crops and people. The proposed method uses data on very many traits to identify sequence variants that have a function and to predict the traits affected by each variant.Read moreRead less