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Research

Equitable Expanded Carrier Screening Needs Indigenous Clinical and Population Genomic Data

Expanded carrier screening (ECS) for recessive monogenic diseases requires prior knowledge of genomic variation, including DNA variants that cause disease. The composition of pathogenic variants differs greatly among human populations, but historically, research about monogenic diseases has focused mainly on people with European ancestry. By comparison, less is known about pathogenic DNA variants in people from other pa

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Systematic assessment of tissue dissociation and storage biases in single-cell and single-nucleus RNA-seq workflows

Systematic comparison of recovered cell types and their transcriptional profiles across the workflows has highlighted protocol-specific biase

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COPD-related modification to the airway epithelium permits intracellular residence of nontypeable haemophilus influenzae

Our findings indicate that COPD, cigarette smoke and macrolide antibiotics potentiate the susceptibility to persistent intracellular NTHi

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Assisted reproductive technology and birth defects: A systematic review and meta-analysis

It has been 10 years since we carried out a systematic search of the literature on birth defect risk in infants born following assisted reproductive...

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Evaluating hypoxia during air travel in healthy infants

Up to a third of ex-preterm infants flying near term exhibit pulse oxygen saturation (SpO2) of less than 85% during air travel.

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Improved long-term survival in patients on combination therapies following an incident acute myocardial infarction: A longitudinal population-based study

To investigate the single and combined effectiveness of commonly prescribed secondary preventive medications (post-acute myocardial infarction (AMI)) in...

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Involving consumers and the community in the development of a diagnostic instrument for fetal alcohol spectrum disorders in Australia

Australia's commitment to consumer and community participation in health and medical research has grown over the past decade.

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Resident CD8+ and Migratory CD103+ Dendritic Cells Control CD8 T Cell Immunity during Acute Influenza Infection

The identification of the specific DC subsets providing a critical role in presenting influenza antigens to naïve T cell precursors remains contentious and...

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Survey of clinical infant lung function testing practices

To evaluate current ILF testing practices and to survey users regarding the indications, limitations and perceived clinical benefits of ILF testing.