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Research

Identifying the causal variant for diagnosis of genetic diseases is challenging when using next-generation sequencing approaches and variant prioritization tools can assist in this task. These tools provide in silico predictions of variant pathogenicity, however they are agnostic to the disease under study. We previously performed a disease-specific benchmark of 24 such tools to assess how they perform in different disease contexts.

Research

Directed evolution emulates the process of natural selection to produce proteins with improved or altered functions. These approaches have proven to be very powerful but are technically challenging and particularly time and resource intensive. To bypass these limitations, we constructed a system to perform the entire process of directed evolution in silico.

Research

Invasive meningococcal disease (IMD) causes significant morbidity and mortality worldwide with serogroup B being the predominant serogroup in Australia and other countries for the past few decades. The licensed 4CMenB vaccine is effective in preventing meningococcal B disease. Emerging evidence suggests that although 4CMenB impact on carriage is limited, it may be effective against gonorrhoea due to genetic similarities between Neisseria meningitidis and Neisseria gonorrhoeae.

Research

Therapist factors are generally thought to be important predictors of the capacity to understand and respond to clinical material. The current study aims to identify which features of personality and clinical symptomatology predict a trainee therapist's rating of cognitive behavioural and psychodynamic interpersonal processes in video recordings of these therapies.

Research

Prevalence and exposures of adverse birth outcomes is well studied in low-and-middle-income countries but not well-established for the Pacific Island region. Our study mapped the available evidence on low birth weight (LBW), preterm birth, and small for gestational age (SGA)'s prevalence and their corresponding risks in the region.

Research

Children born to parents with intellectual disability (ID) have been shown as disproportionally represented in child protection services however with limited population-based research.

Research

Autism spectrum disorders are complex, with a strong genetic basis. Genetic research in autism spectrum disorders is limited by the fact that these disorders are largely heterogeneous so that patients are variable in their clinical presentations. To address this limitation, we investigated the genetics of individual dimensions of the autism spectrum disorder phenotypes, or autistic-like traits. These autistic-like traits are continuous variations in autistic behaviours that occur in the general population.

Research

Status epilepticus is associated with significant morbidity and mortality. While vaccine-proximate status epilepticus (VP-SE) has rarely been associated with cases of Dravet syndrome, it is not known whether VP-SE differs clinically from non-vaccine proximate status epilepticus (NVP-SE).

Research

Perioperative respiratory adverse events pose a significant risk in pediatric anesthesia, and identifying these risks is vital. Traditionally, this is assessed using history and examination. However, the perioperative risk is multifactorial, and children with complex medical backgrounds such as chronic lung disease or obesity may benefit from additional objective preoperative pulmonary function tests.

Research

Pediatric surgery cases are increasing worldwide. Within pediatric anesthesia, perioperative respiratory adverse events are the most common precipitant leading to serious complications.