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Biologically-targeted discovery-replication scan identifies G×G interaction in relation to risk of Barrett's esophagus and esophageal adenocarcinoma.
HGG Adv
January 2025
Department of Epidemiology and Biostatistics, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Inherited genetics represents an important contributor to risk of esophageal adenocarcinoma (EAC), and its precursor Barrett's esophagus (BE). Genome-wide association studies have identified ∼30 susceptibility variants for BE/EAC, yet genetic interactions remain unexamined. To address challenges in large-scale G×G scans, we combined knowledge-guided filtering and machine learning approaches, focusing on genes with (A) known/plausible links to BE/EAC pathogenesis (n=493) or (B) prior evidence of biological interactions (n=4,196).
View Article and Find Full Text PDFCopy Number Variation in Asthma: An Integrative Review.
Clin Rev Allergy Immunol
January 2025
Postgraduate Program in Biochemistry, Federal University of Espírito Santo (UFES), Vitória, Espírito Santo, Brazil.
Asthma is a complex disease with varied clinical manifestations resulting from the interaction between environmental and genetic factors. While chronic airway inflammation and hyperresponsiveness are central features, the etiology of asthma is multifaceted, leading to a diversity of phenotypes and endotypes. Although most research into the genetics of asthma focused on the analysis of single nucleotide polymorphisms (SNPs), studies highlight the importance of structural variations, such as copy number variations (CNVs), in the inheritance of complex characteristics, but their role has not yet been fully elucidated in asthma.
View Article and Find Full Text PDFHotspots of genetic change in Yersinia pestis.
Nat Commun
January 2025
State Key Laboratory of Pathogen and Biosecurity, Academy of Military Medical Sciences, Beijing, China.
The relative contributions of mutation rate variation, selection, and recombination in shaping genomic variation in bacterial populations remain poorly understood. Here we analyze 3318 Yersinia pestis genomes, spanning nearly a century and including 2336 newly sequenced strains, to shed light on the patterns of genetic diversity and variation distribution at the population level. We identify 45 genomic regions ("hot regions", HRs) that, although comprising a minor fraction of the genome, are hotbeds of genetic variation.
View Article and Find Full Text PDFThe geographic scale of population-level variation in growth and nodulation differs for two species of prairie clover.
Am J Bot
January 2025
Department of Ecology, Evolution and Behavior, University of Minnesota Twin Cities, St Paul, 55108, MN, USA.
Premise: Prairies are among the most threatened biomes due to changing patterns of climate and land use, yet information on genetic variation in key species that would inform conservation is often limited. We assessed evidence for the geographic scale of population-level variation in growth of two species of prairie clover and of their symbiotic associations with nitrogen-fixing bacteria.
Methods: Seed representing two species, Dalea candida and D.
Population structure and genetic diversity of Toona sinensis revealed by whole-genome resequencing.
BMC Genom Data
January 2025
Key Laboratory of State Forestry and Grassland Administration Conservation and Utilization of Warm Temperate Zone Forest and Grass Germplasm Resources, Shandong Provincial Center of Forest and Grass Germplasm Resources, Ji'nan, 250103, Shandong, China.
Objectives: Toona sinensis, commonly known as Chinese toon, is a perennial woody plant with significant economic and ecological importance. This study employed whole-genome resequencing of 180 T. sinensis samples collected from Shandong to analyze genetic variation and diversity, ultimately identifying 18,231 high-quality SNPs after rigorous quality control and linkage disequilibrium pruning.
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