Investigating plant genomes offers crucial foundational resources for exploring various aspects of plant biology and applications, such as functional genomics and breeding practices. With the development in sequencing and assembly technology, several genomes have been published. In this paper, we reviewed the progress on genome assembly and quality, from the initial draft genomes to the recent high-quality chromosome-level assemblies. The application of long-read sequencing, optical mapping, and Hi-C technologies has significantly improved the contiguity and completeness of genome assemblies, with the latest assemblies having a contig N50 size over 50 Mb. Despite these advancements, further improvements are still required and possible, particularly on the development of pan-genome and telomere-to-telomere (T2T) genomes. These new genomes will capture the genomic diversity and variations among different cultivars and species, and provide a comprehensive view of the genome structure and gene content, so to deepen our understanding of the genome and facilitate precise breeding and functional genomics.
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http://dx.doi.org/10.3389/fpls.2024.1474658 | DOI Listing |
Elife
January 2025
Center for Medical Genetics Ghent, Department of Biomolecular Medicine, Ghent University, Ghent, Belgium.
Heritable fragile bone disorders (FBDs), ranging from multifactorial to rare monogenic conditions, are characterized by an elevated fracture risk. Validating causative genes and understanding their mechanisms remain challenging. We assessed a semi-high throughput zebrafish screening platform for rapid in vivo functional testing of candidate FBD genes.
View Article and Find Full Text PDFMol Ther Nucleic Acids
March 2025
Department of Neurology, Seoul National University Hospital, Seoul National University College of Medicine, Seoul 03080, Republic of Korea.
Recent advances in molecular science have significantly enlightened our mechanistic understanding of spinocerebellar ataxia type 7. To further close remaining gaps, we performed a multi-omics analysis using SCA7 mice. Entire brain tissue samples were collected from 12-week-old mice, and RNA sequencing, methylation analysis, and proteomic analysis were performed.
View Article and Find Full Text PDFJACC Adv
December 2024
Division of Blood Disorders and Public Health Genomics, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA.
Background: Familial hypercholesterolemia (FH) is a common genetic disorder that is strongly associated with premature cardiovascular disease. Effective diagnosis and appropriate treatment of FH can reduce cardiovascular disease risk; however, FH is underdiagnosed. Electronic health record (EHR)-based FH screening tools have been previously described to enhance the detection of FH.
View Article and Find Full Text PDFJACC Adv
December 2024
Alliance for Medical Research in Africa, Dakar, Senegal.
This proposed scientific statement is focused on providing new insights regarding challenges and opportunities for cardiovascular health (CVH) promotion in Africa. The statement includes an overview of the current state of CVH in Africa, with a particular interest in the cardiometabolic risk factors and their evaluation through metrics. The statement also explains the main principles of primordial prevention, its relevance in reducing noncommunicable disease and the different strategies that have been effective worldwide.
View Article and Find Full Text PDFJ Diabetes Metab Disord
June 2025
Metabolomics and Genomics Research Center, Endocrinology and Metabolism Molecular-Cellular Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
Introduction: The effects of Sodium-glucose cotransporter-2 (SGLT-2) inhibitors on cardiac outcomes, cardiovascular mortality (CVM), and all-cause mortality (ACM) in type 2 diabetes mellitus (T2DM) patients have been reported heterogeneously in different studies.
Methods: PubMed, Scopus, Embase, Cochrane Library, and Scholar databases were searched with relevant MeSH terms from January 1, 2010, to November 14, 2023. The study used Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines.
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