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Applying principles of adult learning to rural health electives in a medical school curriculum.
BMC Med Educ
January 2025
Department of Rural Health, Melbourne Medical School, The University of Melbourne, 49 Graham Street, Shepparton, VIC, 3630, Australia.
The health disparities between rural and urban populations in Australia, driven by socioeconomic, environmental, and healthcare access factors, highlight the urgent need for rural-focused medical education. The Melbourne Medical School's Rural Health Discovery program addresses this need by integrating adult learning principles within a redesigned curriculum that includes the Rural Health Foundations and Integrating Rural Health topics. These Discovery topics engage medical students from diverse backgrounds through a blend of self-directed learning, problem-solving, and immersive clinical placements in rural settings.
View Article and Find Full Text PDFStructural polymorphism and diversity of human segmental duplications.
Nat Genet
January 2025
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Segmental duplications (SDs) contribute significantly to human disease, evolution and diversity but have been difficult to resolve at the sequence level. We present a population genetics survey of SDs by analyzing 170 human genome assemblies (from 85 samples representing 38 Africans and 47 non-Africans) in which the majority of autosomal SDs are fully resolved using long-read sequence assembly. Excluding the acrocentric short arms and sex chromosomes, we identify 173.
View Article and Find Full Text PDFCFAP47 is Implicated in X-Linked Polycystic Kidney Disease.
Kidney Int Rep
December 2024
Department of Nephrology, Graduate School of Medical and Dental Sciences, Institute of Science Tokyo, Tokyo, Japan.
Introduction: Autosomal dominant polycystic kidney disease (ADPKD) is a well-described condition in which approximately 80% of all cases have a genetic explanation; and among sporadic cases without a family history, the genetic bases remain unclear in approximately 30% of cases. This study aimed to identify genes associated with polycystic kidney disease (PKD) in patients with sporadic cystic kidney disease in which a clear genetic change was not identified in established genes.
Methods: A next-generation sequencing panel analyzed known genes related to kidney cysts in 118 sporadic cases, followed by whole-genome sequencing (WGS) on 47 unrelated individuals without identified candidate variants.
Identification and annotation of centromeric hypomethylated regions with CDR-Finder.
Bioinformatics
November 2024
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, United States.
Motivation: Centromeres are chromosomal regions historically understudied with sequencing technologies due to their repetitive nature and short-read mapping limitations. However, recent improvements in long-read sequencing allow for the investigation of complex regions of the genome at the sequence and epigenetic levels.
Results: Here, we present Centromere Dip Region (CDR)-Finder: a tool to identify regions of hypomethylation within the centromeres of high-quality, contiguous genome assemblies.
Identification and annotation of centromeric hypomethylated regions with Centromere Dip Region (CDR)-Finder.
bioRxiv
November 2024
Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Centromeres are chromosomal regions historically understudied with sequencing technologies due to their repetitive nature and short-read mapping limitations. However, recent improvements in long-read sequencing allowed for the investigation of complex regions of the genome at the sequence and epigenetic levels. Here, we present Centromere Dip Region (CDR)-Finder: a tool to identify regions of hypomethylation within the centromeres of high-quality, contiguous genome assemblies.
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