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Iris: A Next Generation Digital Pathology Rendering Engine.
J Pathol Inform
January 2025
University of Michigan Medical School, Department of Pathology, 2800 Plymouth Road, Ann Arbor, MI 48109-2800, USA.
Digital pathology is a tool of rapidly evolving importance within the discipline of pathology. Whole slide imaging promises numerous advantages; however, adoption is limited by challenges in ease of use and speed of high-quality image rendering relative to the simplicity and visual quality of glass slides. Herein, we introduce Iris, a new high-performance digital pathology rendering system.
View Article and Find Full Text PDFUsing the Telomere-to-Telomere reference, we assembled the distribution of simple repeat lengths present in the human genome. Analyzing over two hundred mammalian genomes, we found remarkable consistency in the shape of the distribution across evolutionary epochs. All observed genomes harbor an excess of long repeats, which are prone to developing into repeat expansion disorders.
View Article and Find Full Text PDFCRISPR-Cas enzymes must recognize a protospacer-adjacent motif (PAM) to edit a genomic site, significantly limiting the range of targetable sequences in a genome. Machine learning-based protein engineering provides a powerful solution to efficiently generate Cas protein variants tailored to recognize specific PAMs. Here, we present Protein2PAM, an evolution-informed deep learning model trained on a dataset of over 45,000 CRISPR-Cas PAMs.
View Article and Find Full Text PDFTraining for the future of the genetic counseling profession: Exploring the assessment and adaptation of graduate programs' didactic curriculum.
J Genet Couns
February 2025
Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.
Since the first genetic counseling program (GCP) was established in 1969, there has been a proliferation of growth and demand for genetic counselors. Advances in technology, affordable access to genetic testing, public genomic health initiatives, and diversifying clinical and non-clinical roles comprise a dynamic environment that GCPs must respond to. While there is extensive literature regarding how other health professions adapt their curricula to changing environments, this has yet to be documented and explored for genetic counseling.
View Article and Find Full Text PDF« Augmented radiotherapy » in the management of high-risk prostate cancer (PCa): a systematic review.
Crit Rev Oncol Hematol
January 2025
Centre de Radiothérapie Charlebourg, La Défense, Groupe Amethyst, 65, avenue Foch, 92250 La Garenne-Colombes, France; Department of radiation oncology, Institut Bergonié, Bordeaux, France.
Background: In patients with high-risk (HR) prostate cancer (PCa) treated with radiotherapy and androgen deprivation therapy (ADT), intensification with androgen receptor pathway inhibitor (ARPI) improves overall survival (OS), at the cost of significant side-effects. We hypothesized that "augmented RT" schedules (defined as either dose-escalation on the prostate gland over 78Gy and/or addition of whole pelvic radiotherapy (WPRT)), combined with long-term ADT can reach excellent prostate cancer specific survival (PCSS) in this population with little detrimental impact on quality of life.
Methods: We searched Pubmed database until February 8, 2024.
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