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We report the complete reference genome sequences of three <i>Haemophilus ducreyi</i> isolates (ITG3105, CIP76118, and TMA3542), generated using Oxford Nanopore and Illumina sequencing, and hybrid assemblies. Each genome has a closed circular chromosome; ITG3105 and …
Read PDFSmall supernumerary marker chromosomes (sSMCs) remain a diagnostic challenge despite sequencing advances. As the field shifts toward cytogenomics, there is a need to establish methodologies to resolve these complex genetic variants at base pair resolution, …
Read PDFPolishing, the process of correcting base-level errors in genome assemblies, is a critical step for ensuring accuracy in downstream analyses, such as variant calling, gene annotation, and clinical genomics applications. While recent advances in long-read …
Read PDF<h4>Background</h4>Preimplantation genetic testing for structural rearrangements (PGT-SR) facilitates the selection of embryos with balanced karyotype prior to implantation. Currently, there is a critical need for reference materials (RMs) to ensure PGT-SR development.<h4>Results</h4>This study designed a …
Read PDFThis study aimed to resolve diagnostic discrepancies in which expanded carrier screening (ECS) in a healthy population suggested hemophilia A carrier status due to F8 intron 22 inversion (Inv22), while further analysis revealed a true …
Read PDF<h4>Introduction</h4>The occurrence and genomic context of the mobile colistin resistance gene <i>mcr-9.1</i> in the United Arab Emirates (UAE) food chain remain poorly characterized, with no previous reports identified from retail food products based on the …
Read PDFMule deer (Odocoileus hemionus) is an ecologically and economically important cervid species which is widely distributed across western North America. Their broad range and use of diverse habitats, including those linked to historical glacial refugia, …
Read PDFPhyllospadix spp. (surfgrass) are flowering plants and keystone species in the rocky intertidal and subtidal environments of the North Pacific Ocean. Here we report a chromosome level assembly for P. torreyi, which occurs along the …
Read PDF<i>Neisseria meningitidis</i> is a primary cause of bacterial meningitis and septicemia, which is a significant global public health concern. Here, we report Oxford Nanopore Technologies RNA sequencing for <i>N. meningitidis</i> serogroup B strain M0579. This …
Read PDFHorses are major domestic animals and cultural symbols that have accompanied humans for millennia. They underpin transport, agriculture, warfare and sport, and also provide a model for studying domestication, complex traits and adaptive evolution. Recent …
Read PDFThe CNTNAP2 gene encodes CASPR2, a transmembrane protein essential for neuronal development and synaptic function. Biallelic pathogenic variants cause Pitt-Hopkins-like syndrome, characterized by intellectual disability, epilepsy, and autistic features. We report two patients with a …
Read PDFThe northern elephant seal (Mirounga angustirostris) is the largest pinniped species in the northern hemisphere. The species is classified as being of least conservation concern by the IUCN-a triumph of conservation efforts despite hunting pressure …
Read PDFGlobally, many bumble bee species are declining in abundance due to diverse factors that include habitat loss, pesticide exposure, disease, and climate change. Some species' populations, however, appear to be relatively stable or even increasing, …
Read PDFGenomic epidemiology was essential for characterizing SARS-CoV-2 transmission during the early COVID-19 pandemic. This systematic review examined how whole-genome sequencing was used in local outbreak investigations published between March 2020 and March 2021. Searches of …
Read PDFFremontodendron (Malvaceae) is a genus of shrubs native to the California Floristic Province (CFP) with dense, stellate trichomes on their leaves (hence the common name "flannelbush"). The current treatment of the genus includes the widespread …
Read PDFFocal and intelligent passerine songbirds, corvids (Aves: Corvidae) have served as models for research on the genomics of hybridization and cognition. Clark's Nutcracker (Nucifraga columbiana), the sole North American member of its genus, is distributed …
Read PDFThe ornate shrew (Sorex ornatus) is a small predatory mammal with a broad distribution in northern, central, and southern California as well as in Baja California, Mexico. The ornate shrew is a highly productive consumer …
Read PDF<h4>Summary</h4>Microbiome HiFi Amplicon Sequence Simulator (MHASS) creates realistic synthetic PacBio HiFi amplicon sequencing datasets for microbiome studies, by integrating genome-aware abundance modeling, realistic dual-barcoding strategies, and empirically derived pass-number distributions from actual sequencing runs. MHASS …
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