This review provides a comprehensive overview of the chemistries and workflows of the sequencing methods that have been or are currently commercially available, providing a very brief historical introduction to each method. The main optical genome mapping approaches are introduced in the same manner, although only a subset of these are or have ever been commercially available. The review comes with a deck of slides containing all of the figures for ease of access and consultation.
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http://dx.doi.org/10.1021/cbmi.4c00060 | DOI Listing |
PLoS One
January 2025
Institute of Medicine, Chung Shan Medical University, Taichung, Taiwan.
Objectives: The coronary heart disease (CHD) can influence the development of several diseases. The presence of CHD is correlated to a higher incidence of concurrent diabetic retinopathy (DR) in previous study. Herein, we aim to analyze the relationship between the CHD severity and following DR with different severity.
View Article and Find Full Text PDFAm J Hematol
January 2025
Department of Laboratory Medicine, Korea University College of Medicine, Seoul, South Korea.
Eye (Lond)
January 2025
Save Sight Institute, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia.
Purpose: To determine how Hardy-Rand-Rittler (HRR) colour vision testing correlates with visual functional and structural assessments in Cone and Cone-Rod Dystrophy.
Methods: Thirty-four Cone and 69 Cone-Rod Dystrophy patients diagnosed by electroretinography (ERG) at the Save Sight Institute in Sydney were included in a retrospective analysis. Each patient's HRR colour vision test scores were compared with markers of cone and rod system function including visual acuity (VA), ERG responses, changes on Spectral Domain Optical Coherence Tomography (OCT) and Fundus Autofluorescence.
JMIR Med Inform
January 2025
Graduate School of Science and Technology, Nara Institute of Science and Technology, Ikoma, Japan.
Background: Advances in genetics have underscored a strong association between genetic factors and health outcomes, leading to an increased demand for genetic counseling services. However, a shortage of qualified genetic counselors poses a significant challenge. Large language models (LLMs) have emerged as a potential solution for augmenting support in genetic counseling tasks.
View Article and Find Full Text PDFThe role of glioma-associated myeloid cells in tumor growth and immune evasion remains poorly understood. We performed single-cell RNA sequencing of immune and tumor cells from 33 gliomas, identifying two distinct myeloid-derived suppressor cell (MDSC) populations in isocitrate dehydrogenase-wild-type (IDT-WT) glioblastoma: an early progenitor MDSC (E-MDSC) population with up-regulation of metabolic and hypoxia pathways and a monocytic MDSC (M-MDSC) population. Spatial transcriptomics demonstrated that E-MDSCs geographically colocalize with metabolic stem-like tumor cells in the pseudopalisading region.
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