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

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

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

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

Citation: Libman I, Haynes A, Lyons S, Pradeep P, Rwagasor E, et al. ISPAD Clinical Practice Consensus Guidelines 2022: Definition, epidemiology, and ...

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

Citation: Donovan GM, Wang KCW, Elliot JG, James AL, Noble PB. Quantifying airway remodelling for research or clinical purposes: How should we ...

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

Impetigo is a contagious skin disease caused by Staphylococcus aureus and Streptococcus pyogenes. Without treatment, impetigo may be recurrent, develop into severe disease, or have serious, life-threatening sequelae. Standard treatment consists of topical or systemic antibiotic therapy (depending on severity), however, due to antibiotic resistance some therapies are increasingly ineffective. ...

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

Maternal diet during pregnancy has long been recognised as an important determinant of neonatal outcomes and child development. Infant body composition is a potentially modifiable risk factor for predicting future health and metabolic disease. ...

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

To examine the lived experiences of young people successfully managing life with ADHD and investigate the applicability of adult models of Recovery to these individuals. ...

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

Streptococcus pneumoniae is a key contributor to childhood morbidity and mortality in Papua New Guinea (PNG). For the first time, whole genome sequencing of 174 isolates has enabled detailed characterisation of diverse S. pneumoniae causing invasive disease in young children in PNG, 1989-2014. ...

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