Reports and Findings

Allelic bias when performing in-solution enrichment of ancient human DNA

In-solution hybridisation enrichment of genetic variation is a valuable methodology in human paleogenomics. It allows enrichment of endogenous DNA by targeting genetic markers that are comparable between sequencing libraries. Many studies have used the 1240k reagent-which enriches 1,237,207 genome-wide SNPs-since 2015, though access was restricted.

EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO

Ellis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based plasma membrane protrusions that function as cellular antennae and are required for Hedgehog signaling, a key pathway during skeletal morphogenesis.

A high-throughput sequencing test for diagnosing inherited bleeding, thrombotic, and platelet disorders

The ThromboGenomics platform thus provides an affordable DNA-based test to diagnose patients suspected of having a known inherited BPD

Status of research and development of vaccines for Streptococcus pyogenes

Vaccines against Streptococcus pyogenes are considered as impeded vaccines because of a number of crucial barriers to development

Community Development Coordinator Role Consultation: Consultation Report

This report will outline the theory and evidence base for Community Development and Community Engagement, report on consultation activities and findings

A review of Let’s Read in the context of the South Australian Service Setting

Independent review of the Let’s Read literacy support program in South Australia and how it fits within the mix of services in South Australia that support the development of children’s emergent literacy

Temporal changes in BEXSERO® antigen sequence type associated with genetic lineages of Neisseria meningitidis over a 15-year period in Western Australia

The BEXSERO® vaccine which is used to prevent serogroup B disease is composed of four sub-capsular protein antigens supplemented with an outer membrane vesicle.

BPG Formulation Preferences Study: Exploring patient, family and clinician reformulations preferences for BPG

The key objective of this study is to collect data about patient and clinician preferences about reformulations.

Baseline grey matter volume of non-transitioned "ultra high risk" for psychosis individuals with and without attenuated psychotic symptoms at long-term follow-up

This study found that differences in regional grey matter volume are discernible at an early stage of ultra-high risk psychosis

Australian trachoma surveillance annual report, 2013

National Trachoma Surveillance and Reporting Unit to collate, analyse and report trachoma prevalence data and document trachoma control strategies in Australia

Probiotics for treatment and primary prevention of allergic diseases and asthma: looking back and moving forward

Review treatment and primary prevention studies, recent meta-analyses, and discuss the current understanding of the role of probiotics in this context

Health care utilization and costs for children and adults with duchenne muscular dystrophy

Annual economic cost of Duchenne Muscular Dystrophy was found to be high, reflecting a significant socioeconomic burden, especially in boys who reach adulthood