Search the literature by keyword, topic, or author. Filter to articles with full text available.
1474 results
Meiotic crossovers rearrange existing genetic variation between homologous chromosomes, profoundly affecting genomic diversity. Crossovers are typically constrained to one to three events per chromosome pair, and their distribution is shaped by chromatin accessibility and DNA …
Read PDFAntibiotic heteroresistance, characterized by rare resistant subpopulations of bacteria within a susceptible main population, is associated with treatment failure and often caused by tandem amplification of resistance genes. Here, we investigated how the distribution of …
Read PDF<h4>Background</h4>Myeloid/Lymphoid Neoplasms (MLN) with eosinophilia and PDGFRB rearrangements are rare but distinct hematologic malignancies driven by the constitutive activation of the PDGFRB tyrosine kinase through gene fusions. These neoplasms are sensitive to tyrosine kinase inhibitors …
Read PDFLong-read sequencing methodologies provide powerful capacity to identify all types of genomic variations in a single test. Long-read platforms such as Oxford Nanopore and PacBio have the potential to revolutionize molecular diagnostics by reaching unparalleled …
Read PDFDNA methylation can give rise to robust biomarkers of aging, yet most studies profile it at the bulk tissue level, which masks cell type-specific alterations that may follow distinct aging trajectories. Long-read sequencing technology enables …
Read PDFBACKGROUND: Comprehensive genetic characterization and screening for congenital adrenal hyperplasia (CAH) have not yet been achieved at the population level because of the complexity of the CYP21A2 locus. This prospective study incorporated long-read sequencing (LRS) …
Read PDFGene fusions are common primary drivers of pediatric leukemias and are the result of underlying structural variants (SVs). Current clinical workflows to detect such alterations rely on a multimodal approach, which often increases analysis time …
Read PDFMetabarcoding is a powerful tool to simultaneously identify multiple taxa within a habitat. However, its application to host-associated microbiomes is challenged by substantial co-amplification of host DNA. Here we developed a host-exclusive primer design workflow, …
Read PDFCongenital adrenal hyperplasia (CAH) is an autosomal recessive disorder, commonly caused by variants in CYP21A2 (chr6p21.33), which encodes the 21-hydroxylase enzyme. Genetic diagnosis is challenging due to the high homology between CYP21A2 and its nearby …
Read PDFGiven the increased predictions on interactome size and demand for protein function information, methods for detecting protein-protein interactions remain a significant development area. The all-vs.-all sequencing (AVA-Seq) method utilizes a convergent fusion plasmid design to …
Read PDF<h4>Introduction</h4>Pathogenic variants in the <i>DMD</i> gene maintaining the open reading frame typically cause Becker muscular dystrophy. Here, we report a 7.7-year-old boy exhibiting a severe Duchenne muscular dystrophy phenotype, despite an in-frame deletion of <i>DMD</i> …
Read PDF<h4>Introduction</h4>Faulty DNA repair and epigenetic regulation contribute to neurodegeneration in Alzheimer's disease. Long-read sequencing enables analysis of "dark regions" that are difficult to study via traditional sequencing methodologies.<h4>Methods</h4>Using nanopore whole-genome DNA sequencing of post mortem …
Read PDFThe complete mitochondrial genome of the Peruvian Paso Horse was assembled using PacBio HiFi long reads, resulting in a high-quality circular genome of 16,617 bp comprising 13 protein-coding genes, 22 tRNAs, 2 rRNAs, and a …
Read PDFAt present, no single workflow is available for quick and accurate identification and analysis of genomes of various viruses present together in a field or clinical sample, particularly when followed by long-read sequencing. Our work …
Read PDFParalogous genes challenge short-read sequencing (SRS) due to high sequence similarity. Although long-read sequencing (LRS) improves resolution, the extent to which it resolves paralogous genes remains unclear. This study evaluates the capability of LRS by …
Read PDFAlthough next-generation sequencing has emerged as a powerful tool for diagnosing rare diseases (RD), many cases of inherited metabolic diseases (IMD) remain unsolved, hindering the diagnosis, clinical and therapeutic management of the patients. The primary …
Read PDF<h4>Objective</h4>To explore the use of genomic screening for congenital adrenal hyperplasia (CAH) based on long-read sequencing (LRS), aiming to provide an effective method for LRS-based screening (LRSBCS).<h4>Methods</h4>All newborns underwent traditional CAH screening via the collection …
Read PDF<h4>Background</h4>Hepatitis B virus (HBV) genomes integrated into human DNA significantly contribute to surface antigen (HBsAg) production and may drive hepatocellular carcinoma (HCC). Long-read sequencing methods like Nanopore offer advantages over short-read next-generation sequencing (NGS) by …
Read PDF<i>Leptoseris columna</i>, a mesophotic coral species belonging to the family Agariciidae, is distributed throughout the Indo-Pacific region. This species is considered as of "Least concern" by the IUCN, yet, faces multiple local and global stressors. …
Read PDFHepatocellular carcinoma (HCC) was characterized by a highly complex genome, with structural variations (SVs) playing a significant role in its development. In this study, we employed Oxford Nanopore Technology long-read sequencing in paired tumor and …
Read PDF