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Whole exome sequencing-based homologous recombination deficiency test for epithelial ovarian cancer.
J Ovarian Res
January 2025
Department of Medical Genetics, National Taiwan University Hospital, 19F, No. 8, Chung-Shan South Road, Taipei City, Taiwan.
Background: The homologous recombination deficiency (HRD) test is an important tool for identifying patients with epithelial ovarian cancer (EOC) benefit from the treatment with poly(adenosine diphosphate-ribose) polymerase inhibitor (PARPi). Using whole exome sequencing (WES)-based platform can provide information of gene mutations and HRD score; however, the clinical value of WES-based HRD test was less validated in EOC.
Methods: We enrolled 40 patients with EOC in the training cohort and 23 in the validation cohort.
Genetic diversity of the immunoglobulin heavy chain locus in cohorts of patients affected with SARS-CoV-2.
Hum Genomics
January 2025
Department of Biology, Tor Vergata University of Rome, Via della Ricerca Scientifica 1, 00133, Rome, Italy.
Background: The Immunoglobulin Heavy Chain (IGH) genomic region is responsible for the production of circulating antibodies and warrants careful investigation for its association with COVID-19 characteristics. Multiple allelic variants within and across different IGH gene segments form a limited set of haplotypes. Previous studies have shown associations between some of these haplotypes and clinical outcomes of COVID-19.
View Article and Find Full Text PDFPolymorphisms and dental age in non-syndromic cleft lip and palate: a cross-sectional study.
BMC Pediatr
January 2025
Department of Orthodontics, University Hospital Bonn, Medical Faculty, Welschnonnenstr. 17, 53111, Bonn, Germany.
Background: Children with non-syndromic cleft lip with or without palate (CL ± P) may present alterations in dental development. The purpose of this cross-sectional study was to compare the dental age (DA) between children with and without CL ± P, and whether single nucleotide polymorphisms (SNPs) in genes encoding growth factors are associated with DA variations.
Methods: Children aged between 5 and 14 years with and without CL ± P were recruited to participate in this study.
The complete chloroplast genome sequences of monotypic genus Pseudogalium, and comparative analyses with its relative genera.
BMC Genomics
January 2025
School of Life Sciences, Yunnan Normal University, Kunming, 650000, China.
Background: Pseudogalium is a new monotypic genus with two subspecies in China and one in Japan, which holds a distinctive phylogenetic position and ecological significance within the tribe Rubieae. Chloroplast genomes contain abundant information for resolving phylogenetic relationships. To investigate the phylogenetics of P.
View Article and Find Full Text PDFA comprehensive allele specific expression resource for the equine transcriptome.
BMC Genomics
January 2025
Department of Population Health and Reproduction, Davis School of Veterinary Medicine, University of California, Room 4206 Vet Med3A One Shields Ave, Davis, CA, 95616, USA.
Background: Allele-specific expression (ASE) analysis provides a nuanced view of cis-regulatory mechanisms affecting gene expression.
Results: An equine ASE analysis was performed, using integrated Iso-seq and short-read RNA sequencing data from four healthy Thoroughbreds (2 mares and 2 stallions) across 9 tissues from the Functional Annotation of Animal Genomes (FAANG) project. Allele expression was quantified by haplotypes from long-read data, with 42,900 allele expression events compared.
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