Aims Monogenic diabetes is characterized as a group of diseases caused by rare variants in
single genes. Multiple genes have been described to be responsible for monogenic …

Cardiometabolic disorders are a huge and increasing financial and public health burden.
Genome-wide association studies (GWASs) have been effective at uncovering genetic …

Cystic kidney disease (CyKD) is the commonest life-threatening monogenic disorder,
causing great morbidity and mortality. Whilst there is believed to be a strongly monogenic …

A large proportion of genetic variations involved in complex diseases are rare and located
within non-coding regions, making the interpretation of underlying biological mechanisms a …

In the last years, Genome-Wide Associations Studies (GWAS) found many variants
associated with complex diseases. However, the biological and molecular links between …

Eliatan Niktab Page 1 Graph Neural Networks to Identify Genetic Modifiers of Rare Complex
Inheritable Diseases Eliatan Niktab 2023 A thesis submitted to the Victoria University of …

Abstract Background: Pharmacogenomics (PGx) aims to utilize a patient's genetic data to
enable safer and more effective prescribing of medications. The Clinical Pharmacogenetics …

Age-related macular degeneration (AMD) is a frequent disorder of the central retina. So far,
the pathomechanisms of the disease are incompletely understood, precluding successful …

Genetic sequences carry a wealth of information. Scientists and statisticians have utilized
genetic variation data to answer a wide range of questions in evolutionary biology and …

The risk of acquiring (or being protected from) NCDs arises from the complex interplay
between the environment that an individual lives in (eg work and living conditions) and an …