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Incontinentia pigmenti (IP) is caused by loss-of-function variants in IKBKG, with molecular genetic diagnosis complicated by a pseudogene. We describe seven individuals from three families with IP but negative clinical genetic testing in whom long-read …
Read PDF<h4>Objective</h4>Fibroblast growth factor 12 (FGF12), a member of the fibroblast homologous factor family, plays a key role in the modulation of voltage-gated sodium (Nav) channels. Pathogenic variants in the FGF12 gene leading to a gain-of-function …
Read PDFPooled sequencing provides a rapid cost-effective approach to assess genetic variation segregating within populations of organisms. However, such studies are typically limited to single nucleotide variants and small indels (≤50 bp), and have not been …
Read PDF<h4>Abstract</h4>Hemophilia is an X-linked bleeding disorder caused by defects in the F8 or F9 genes. Given the wide variety of F8 variants, conventional genetic testing typically requires a combination of multiple methods, and detecting rearrangements …
Read PDF<h4>Background</h4>Upper tract urothelial carcinoma (UTUC), including renal pelvic urothelial carcinoma and ureter urothelial carcinoma, accounts for 10% of urothelial carcinoma (UC). Poorer outcomes and different genetic characteristics of UTUC were reported compared to urothelial carcinoma …
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 PDFGenetic myopathies are caused by pathogenic variants in >300 genes across the nuclear and mitochondrial genomes. Although short-read next-generation sequencing (NGS) has revolutionised the diagnosis of genetic disorders, large and/or complex genetic variants, which are …
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 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 PDFOver half of presumed genetic disease cases remain undiagnosed following short-read exome sequencing (SR-ES) or genome sequencing (SR-GS). Long-read GS (LR-GS) shows promise for uncovering etiologies missed by SR genetic testing, particularly structural variants (SVs). …
Read PDF<h4>Purpose</h4>To demonstrate the clinical value of integrating next-generation sequencing (NGS) with long-read sequencing (LRS) for resolving complex <i>F8</i> variants and guiding personalized reproductive strategies in Haemophilia A (HA).<h4>Patients and methods</h4>A patient with a history of …
Read PDFThe identification of plasmids from assembled genomes is well supported by numerous different tools, yet very few incorporate a plasmid copy number estimation step. This limits a comprehensive plasmid analysis, often leaving researchers to perform …
Read PDFAlthough several maize genome assemblies are publicly available, those of lines important to European breeding programs are underrepresented. Using PacBio long-read sequencing, we assembled high-quality chromosome-level genomes of 29 key lines of European breeding relevance, …
Read PDFIstocheta aldrichi Mesnil 1953 (Diptera: Tachinidae) is native to Japan and has recently become an important biological control agent of the Japanese beetle, Popillia japonica (Coleoptera: Scarabaeidae), a pest with >300 host plants, including roses, …
Read PDFAlthough an increasing number of long-read genome assemblies have been created from a diverse collection of dogs and wolves, most published assemblies represent the diploid genome as a single primary sequence. Here, we generate and …
Read PDFZacco platypus is a freshwater minnow widely distributed across East Asia, noted for its high environmental adaptability, strong reproductive capacity, and ability to hybridize across genera. The type specimen was described from Japan, yet no …
Read PDF<i>Tremella fuciformis</i> (<i>T. fuciformis</i>) is consistently found in association with <i>Annulohypoxylon stygium</i> (<i>A. stygium</i>) in natural environments. However, their interaction remains largely cryptic and requires a dedicated in situ sequencing approach for elucidation. Traditional genome …
Read PDFAcrossocheilus wenchowensis is a lukewarm-water fish found in southern Chinese mountain streams, valued for both ornamental and edible purposes. We assembled a near telomere-to-telomere (T2T) genome using HiFi, ONT, Hi-C and Illumina data. The assembly …
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