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Wilson disease (WD) is an autosomal recessive disorder of copper transport caused by bi-allelic pathogenic variants in the ATPase copper transporting beta gene (<i>ATP7B</i>). Results of standard genetic diagnostics remain inconclusive in 3%-20% of WD …
Read PDFFreshwater Gammarus species represent important keystone organisms in aquatic ecosystems, and are sensitive to environmental changes. Here, we present the first pseudo-chromosome-level genome of Gammarus nekkensis, endemic to north China. We integrated PacBio HiFi long-read …
Read PDFAtypical frontotemporal lobar degeneration with ubiquitin-positive inclusions (aFTLD-U) is neuropathologically characterized by aggregation of the FET family of proteins and clinically manifests as sporadic young-onset frontotemporal dementia. Here we describe a major risk locus on …
Read PDFAvian metapneumovirus (aMPV) is an important respiratory pathogen of global concern in poultry. Until recently, the United States (U.S.) was considered free of aMPV following the eradication of subtype C in the early 2000s. However, …
Read PDFPURPOSE: 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 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 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 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 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 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) …
Read PDF<h4>Objective</h4>To evaluate the impact of discontinuing contact precautions for vancomycin-resistant enterococci (VRE) on strain and plasmid transmission using long-read whole-genome sequencing (WGS).<h4>Study design</h4>Before-after trial of adults with <i>Enterococcus</i> bloodstream infections pre-(Jan-Oct 2021) and post-(Oct-Dec 2021 …
Read PDFFacultative parthenogenesis and intrapopulation mixed ploidy (where individuals with differing ploidy exist within the same area) are rare in animals. However, these unique characteristics allow opportunities to investigate the relationship between sexual modality and genome …
Read PDFGenome sequencing (GS) has emerged as a transformative tool in the diagnosis of rare diseases with complex phenotypes. This technology uncovers structural, intronic, non-coding, and mitochondrial variants that traditional methods might miss, thereby facilitating the …
Read PDF<h4>Background</h4>Hepatocellular carcinoma (HCC) represents a leading cause of cancer-associated deaths worldwide, and its development is strongly associated with aberrant RNA processing and metabolic reprogramming. Splicing factor 3B subunit 4 (SF3B4), the core component of the …
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