SAMStat is an efficient program to extract quality control metrics from fastq and SAM/BAM files. A distinguishing feature is that it displays sequence composition, base quality composition and mapping error profiles split by mapping quality. This allows users to rapidly identify reasons for poor mapping including the presence of untrimmed adapters or poor sequencing quality at individual read positions. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• January 2023

The meningococcal serogroup B-factor H binding protein vaccine (MenB-FHbp) is licensed for use in children aged 10 years or older for protection against invasive serogroup B meningococcal disease. Because young children are at increased risk of invasive meningococcal disease, MenB-FHbp clinical data in this population are needed. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• January 2023

The implementation of an intervention protocol aimed at increasing vocal complexity in three pre-linguistic children with cerebral palsy (two males, starting age 15 months, and one female, starting age 16 months) was evaluated utilising a repeated ABA case series design. The study progressed until the children were 36 months of age. Weekly probes with trained and untrained items were administered across each of three intervention blocks. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• December 2022

Mechanisms underlying the anaphylactic reaction in humans are not fully understood. Here, we aimed at improving our understanding of anaphylaxis by investigating gene expression changes. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• December 2022

Cardiovascular disease (CVD) is the leading cause of death in women around the world. Aboriginal and Torres Strait Islander women (Australian Indigenous women) have a high burden of CVD, occurring on average 10-20 years earlier than non-Indigenous women. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• December 2022

Citation: Libman I, Haynes A, Lyons S, Pradeep P, Rwagasor E, et al. ISPAD Clinical Practice Consensus Guidelines 2022: Definition, epidemiology, and classification of diabetes in children and adolescents. Pediatr Diabetes. 2022;23(8):1160-74. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• December 2022

Two lytic double-stranded DNA (dsDNA) bacteriophages, belonging to the family Herelleviridae, were isolated from wastewater in Western Australia. Biyabeda-mokiny 2 appears to belong to the genus Kayvirus, and Koomba-kaat 1 to Silviavirus. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• December 2022

SARS-CoV-2 infection is associated with a significant risk of hospitalisation, death, and prolonged impact on quality of life. Evaluation of new treatment options and optimising therapeutic management of people hospitalised with SARS-CoV-2 infection remains essential, but rapid changes in pandemic conditions and potential therapies have limited the utility of traditional approaches to randomised controlled trials. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• December 2022

Infant growth trajectory may influence later-life obesity. Human milk provides a wide range of nutritional and bioactive components that are vital for infant growth. Compared to formula-fed infants, breastfed infants are less likely to develop later-onset obesity, highlighting the potential role of bioactive components present in human milk. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• December 2022

Acute rheumatic fever and rheumatic heart disease disproportionately affect Aboriginal and Torres Strait Islander people in Australia, with devastating impacts on morbidity, mortality and community wellbeing. Research suggests that general practitioners and primary care staff perceive insurmountable barriers to improving clinical outcomes, including the need for systemic change outside their scope of practice. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• December 2022

The current study used a transdiagnostic approach to explore experiences of consumers and professionals on how the process of assessing and diagnosing neurodevelopmental conditions can be improved. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• December 2022

Antimicrobials are the most commonly prescribed drug class in children. Overuse through inappropriate prescribing is a key driver of antimicrobial resistance and is recognized as one of the top 10 threats to global health by the World Health Organization. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• December 2022