Best Pract Res Clin Obstet Gynaecol
December 2024
Genetic tests available in the prenatal setting have expanded rapidly with next generation sequencing, and fetal imaging can detect a breadth of many structural and functional abnormalities. To identify a fetal genetic disease, deep phenotyping is increasingly important to generate a differential diagnosis, choose the most appropriate genetic tests, and inform the results of those tests. The Human Phenotype Ontology (HPO) organizes and defines the features of human disease to support deep phenotyping, and ongoing efforts are being made to improve the scope of the HPO to comprehensively include fetal phenotypes.
View Article and Find Full Text PDFLong-term studies are critical for ecological understanding, but they are underutilized as inclusive opportunities for training ecologists. We use our perspective from the Año Nuevo elephant seal programme along with surveys from community members to propose that long-term studies could be better leveraged to promote inclusive education and professional development in ecology. Drawing on our experiences as mentors and mentees, we demonstrate how long-term studies can use their resources, including rich data, robust logistics and extensive professional networks, to improve recruitment and retention of diverse groups of trainees.
View Article and Find Full Text PDFThe value of 'data-enabled', digital healthcare is evolving rapidly, as demonstrated in the COVID-19 pandemic, and its successful implementation remains complex and challenging. Harmonisation (within/between healthcare systems) of infrastructure and implementation strategies has the potential to promote safe, equitable and accessible digital healthcare, but guidance for implementation is lacking. Using respiratory technologies as an example, our scoping review process will capture and review the published research between 12th December 2013 to 12th December 2023.
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