Faculty of Health and Life Sciences: Recent submissions
Now showing items 26-30 of 877
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The effects of pathogenic variants for inherited hemostasis disorders in 140,214 UK Biobank participants
(American Society of Hematology, 30 August 2023)Rare genetic diseases affect millions, and identifying causal DNA variants is essential for patient care. Therefore, it is imperative to estimate the effect of each independent variant and improve their pathogenicity ... -
A scoping review of disability assessment in prospective and cross-sectional studies that included device-based measurement of physical activity
(Human Kinetics, 5 May 2023)BACKGROUND: Evidence on the prevalence, determinants, and health outcomes of physical activity in disabled people is limited. It is possible that the limited availability of high-quality scientific evidence is due to the ... -
Recent UK type 2 diabetes treatment guidance represents a near whole population indication for SGLT2-inhibitor therapy
(BMC, 2 November 2023)Recent type 2 diabetes guidance from the UK's National Institute for Health and Care Excellence (NICE) proposes offering SGLT2-inhibitor therapy to people with established atherosclerotic cardiovascular disease (ASCVD) or ... -
A genome-wide association study of blood cell morphology identifies cellular proteins implicated in disease aetiology
(Nature Research, 18 August 2023)Blood cells contain functionally important intracellular structures, such as granules, critical to immunity and thrombosis. Quantitative variation in these structures has not been subjected previously to large-scale genetic ... -
An Atlas of Variant Effects to understand the genome at nucleotide resolution
(BMC, 3 July 2023)Sequencing has revealed hundreds of millions of human genetic variants, and continued efforts will only add to this variant avalanche. Insufficient information exists to interpret the effects of most variants, limiting ...