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PURPOSE: Hereditary angioedema due to C1-inhibitor deficiency (HAE-C1INH) is caused by heterozygous pathogenic variants in the SERPING1 gene. Structural variants (SVs) account for 10–15% of cases, and while many can be identified using conventional diagnostic …
Read PDFSmoking has been associated with increased risk of periodontitis. The aim of the present study was to compare the periodontal disease severity among smokers and nonsmokers which may help in better understanding of predisposition to …
Read PDFAccurate characterization of genetic variation is fundamental to genomics. While long-read sequencing technologies promise to resolve complex genomic regions and improve variant detection, their application in complex genomes has not been well validated. Here, we …
Read PDFThe expansion of intensive poultry farming has led to a substantial increase in antibiotic use, which, in turn, has promoted the accumulation of antibiotic resistance genes (ARGs). The chicken gut serves as a reservoir for …
Read PDFCellular stresses regulate transcriptional readthrough, whereby RNA polymerase II elongates past a gene's polyadenylation cleavage site without RNA cleavage. Readthrough has been reported in several cancer types. Here, we use long-read sequencing of nascent RNA …
Read PDFHere we discuss three veterinary alphaherpesviruses-pseudorabies virus, equid alphaherpesvirus 1, and bovine alphaherpesvirus 1-that were instrumental in uncovering the true extent of transcriptome complexity through long-read RNA sequencing, which earlier short-read approaches could not resolve. …
Read PDFSomatic structural variants (SVs) are the predominant source of cancer driver mutations and play a critical role in oncogenesis. Comprehensive characterization of somatic SVs is critical for elucidating the mechanisms underlying tumorigenesis and for identifying …
Read PDFBACKGROUND: Crandell-Rees Feline Kidney (CRFK; kidney-derived) cells and PG-4 cells (astrocyte-derived) have been in use and have been passaged for decades in laboratories worldwide; however, no detailed information on the genetic background of the donor …
Read PDF<i>Mesoterricola</i> strains MK458 and JemC181 are anaerobic bacteria within the phylum <i>Acidobacteriota</i>, isolated from sediment and paddy soil, respectively. Here, we report their complete genomes, ranging from 4.76 to 5.18 Mb in size, with G …
Read PDFAlzheimer's disease (AD) is the most common cause of dementia, yet its molecular causes remain incompletely understood. RNA diversity in part arising from dysregulated splicing may contribute to AD pathogenesis, however the ability to interrogate …
Read PDFThe immunoglobulin heavy chain constant (IGHC) locus houses genetic determinates of antibody function and specificity. In this issue of Cell Genomics, Jana et al. use long-read sequencing to characterize extensive inter-individual diversity in the IGHC …
Read PDFClass D carbapenemase-producing Enterobacteriaceae have spread globally in recent decades. The increasing detection of novel variants, often differing by amino acid substitutions or deletions in the β5-β6 loop of OXA-48 or OXA-372 lineages, indicated ongoing …
Read PDFAlthough mutations in many genes cause familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), most cases are sporadic (sALS and sFTD) with unclear etiology. Here we tested whether somatic mutations contribute to sALS and …
Read PDFAnkylosing spondylitis (AS) is a chronic immune-mediated arthritis marked by persistent inflammation and progressive structural damage. Although dysregulation of programmed cell death (PCD) is increasingly recognized in AS pathogenesis, the full spectrum of transcript-level regulation …
Read PDFLong-read sequencing promises to unravel the complexity of polymorphic immune genes including HLA, KIR, IG, and TCR, yet existing tools fall short in accuracy and scope. Here, we present SpecImmune, the first unified computational framework …
Read PDF<h4>Background</h4>The Oxford Nanopore Technologies MinION™ sequencer is a small, portable, low cost device that is accessible to labs of all sizes and attractive for in-the-field sequencing experiments. Selective breeding of crops has led to a …
Read PDFBACKGROUND: Satellite DNAs (satDNAs) can arise from diverse genomic regions, but determining their precise origin remains a major challenge. A previous study reported the colocalization of the As51 satDNA and the 45S ribosomal DNA (rDNA) …
Read PDFThe stereocilin (STRC) gene is a significant contributor to mild-to-moderate sensorineural hearing loss (SNHL), particularly in cases of biallelic STRC deletions and copy number alterations. Although pathogenic single nucleotide variants (SNVs) or small insertion-deletions (indels) …
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