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<h4>Background</h4>TANGO2 deficiency disorder (TDD) is a rare autosomal recessive condition characterized by neurodevelopmental delay, epilepsy, and metabolic crises, mainly caused by recurrent deletions in <i>TANGO2</i>. This study reports the identification of TDD in 2 unrelated …
Read PDF<h4>Background</h4>Accurate typing of the D antigen is critical to provide guidance for blood transfusion and safe management of Rh-incompatible pregnancies. RHD genotyping assays have been widely adopted to improve D variant detection, especially for common …
Read PDFStructural variants (SVs), including duplications, deletions, inversions, translocations, and insertions, play major roles in human phenotypic diversity but remain difficult to detect because of variable size and structural complexity. Optical genome mapping (OGM) uses ultra-high …
Read PDFRapid advances in short-read DNA sequencing technologies have revolutionized population genomic studies, but there are genomic regions where this technology reaches its limits. Limitations mostly arise due to the difficulties in assembly or alignment to …
Read PDFWith the rapid advancement of sequencing technology, third-generation sequencing, particularly single-molecule real-time sequencing and nanopore sequencing, has opened new avenues for the precise prevention and control of genetic diseases. It offers distinct advantages, including long-read …
Read PDFLong-read sequencing technologies have contributed greatly to comparative genomics among species and can also be applied to study genomics within a species. In this study, to determine how substantial genomic changes are generated and tolerated …
Read PDF<h4>Background</h4>Echinococcus tapeworms cause a severe helminthic zoonosis called echinococcosis. The genus comprises various species and genotypes, of which E. granulosus (sensu stricto) represents a significant global public health and socioeconomic burden. Mitochondrial (mt) genomes have …
Read PDFAlthough the genome of Trypanosoma cruzi, the causative agent of Chagas disease, was first made available in 2005, with additional strains reported later, the intrinsic genome complexity of this parasite (the abundance of repetitive sequences …
Read PDFHemizygous pathogenic variants in MBTPS2 located at Xp22.12 cause IFAP syndrome, which is characterized by the triad of ichthyosis, alopecia and photophobia. Here we identified a hemizygous intronic variant in MBTPS2 (NM_015884: c.970+5G>A) in a …
Read PDFHere, we report the genomes of two <i>Salmonella enterica</i> subsp. <i>enterica</i> serovar Montevideo strains (CFSAN005645 and FCC0123) and two <i>Salmonella enterica</i> subsp. <i>enterica</i> serovar Senftenberg strains (FSW0104 and CFSAN087304) isolated from pistachios. The genomes were …
Read PDF<h4>Background</h4>Recent advances in single-molecule sequencing techniques, such as Nanopore sequencing, improved read length, increased sequencing throughput, and enabled direct detection of DNA modifications through the analysis of raw signals. These DNA modifications include naturally occurring …
Read PDFThe <i>APOE</i> gene encodes a lipid transport protein central to Alzheimer's disease (AD) pathogenesis. Three common alleles-ε2 (rs7412(C > T)), ε3 (reference), and ε4 (rs429358(T > C))-arise from two coding variants in exon 4 and …
Read PDF<h4>Background</h4>Oil flax (linseed, Linum usitatissimum L.) is one of the most important oil crops., However, the increases in drought resulting from climate change have dramatically reduces linseed yield and quality, but very little is known …
Read PDF<h4>Background</h4>Switchgrass (<i>Panicum virgatum</i> L.) is an important bioenergy crop widely used for lignocellulosic research. While extensive transcriptomic analyses have been conducted on this species using short read-based sequencing techniques, very little has been reliably derived …
Read PDFAmplification of a CAG trinucleotide motif (CTG18.1) within the TCF4 gene has been strongly associated with Fuchs Endothelial Corneal Dystrophy (FECD). Nevertheless, a small minority of clinically unaffected elderly patients who have expanded CTG18.1 sequences …
Read PDFTechnological limitations have hindered the large-scale genetic investigation of tandem repeats in disease. We show that long-read sequencing with a single Oxford Nanopore Technologies PromethION flow cell per individual achieves 30× human genome coverage and …
Read PDF<h4>Background</h4>Short-read sequencing technologies have made microbial genome sequencing cheap and accessible. However, closing genomes is often costly and assembling short reads from genomes that are repetitive and/or have extreme %GC content remains challenging. Long-read, single-molecule …
Read PDFThe reference genomes of <i>Bombyx mori</i> (<i>B. mori</i>), Silkworm Knowledge-based database (SilkDB) and SilkBase, have served as the gold standard for nearly two decades. Their use has fundamentally shaped model organisms and accelerated relevant studies …
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