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<h4>Motivation</h4>We are now in the era of being able to routinely generate highly contiguous (near telomere-to-telomere) genome assemblies of human and nonhuman species. Complex structural variation and regions of rapid evolutionary turnover are being discovered …
Read PDF<h4>Introduction</h4><i>Rhodiola</i> is one of the few genera in Crassulaceae that includes both dioecious and hermaphroditic species. However, previous studies have mainly relied on representative individuals or limited plastid fragments, which may not fully resolve evolutionary …
Read PDFTea plants possess a highly heterozygous genome and produce diverse beneficial metabolites, yet the genomic basis of its metabolic diversity remains fully elusive. Here, we show that single-cell sequencing of 107 sperm cells, combined with …
Read PDFHER2-positive breast cancer exhibits marked genomic instability and heterogeneity, yet the clonal architecture and copy number variation (CNV) dynamics between ductal carcinoma in situ (DCIS) and invasive ductal carcinoma (IDC), remain poorly understood. We analyzed …
Read PDFWhole-genome studies in cattle play a key role in exploring both individual and population-level genetic variability. Recently, low-coverage whole-genome sequencing (0.5-2×) has been considered as an alternative to traditional approaches. Low-coverage whole-genome sequencing (lcWGS), which …
Read PDF<h4>Background</h4>Breeding of genetically polled animals is a desirable approach in modern cattle husbandry for welfare and economic reasons. At least four different genetic variants associated with polledness in cattle have been identified, suggesting genetic heterogeneity. …
Read PDFRibosomal RNAs (rRNAs), essential components of the ribosome, are coded by the multi-copy ribosomal DNA (rDNA). Interestingly, rDNA displays substantial variation in all species, both as inter-individual differences in copy number (CN) and inter- and …
Read PDFChromosomal inversions and copy-number variants (CNVs) drive genomic and phenotypic diversification in birds by reshaping recombination, gene expression, and genome architecture. Here, we report a complex structural polymorphism on great tit (<i>Parus major</i>) chromosome 1A …
Read PDFBACKGROUND: The integration of human papillomavirus (HPV) DNA into the host genome is a key step in the development of HPV-associated cervical cancer (CC). However, the genomic characteristics of host genomic variations and HPV integration …
Read PDFThe Korean cattle breed, Hanwoo, has been selected as a meat cattle breed since the late 1980s in Korea, but has suffered from reduced genetic diversity due to repeated selection within a single population. In …
Read PDF<h4>Background</h4>Progressive myoclonic epilepsy is a heterogeneous neurodegenerative disorder characterized by early-onset myoclonus, epilepsy, generalized tonic-clonic seizures, and progressive neurological deterioration. Recently, a CGG repeat expansion and increased CSNK1E DNA methylation have been shown to be …
Read PDFWild crop relatives are valuable genetic resources for improving stress adaptation in cultivated species, but their effective use depends on high-quality reference genomes integrated with phenotypic and molecular datasets. Hordeum erectifolium, a wild relative of …
Read PDFSpinifex sericeus (beach spinifex) is a perennial, dioecious grass native to the coastal ecosystem of Oceania that has an important role in dune stability. We present a near telomere-to-telomere, haplotype-resolved nuclear genome and complete organelle …
Read PDF<h4>Background</h4>Advances in our technological capacity to interrogate CNS tumor biology have led to the ever increasing use of genomic sequencing in diagnostic decision making. Presently, CNS tumors are classified based on their epigenetic signatures, leading …
Read PDFCollagen-like proteins (CLPs) serve many pathogenic bacteria as adhesins to attach to host tissue. It was suggested that CLPs are a major determinant in the coevolution of the model system Daphnia (Crustacean) and its virulent …
Read PDFThe genus <i>Capsicum</i> comprises several species that are vital vegetable and spice crops cultivated worldwide, possessing significant economic, nutritional, and ornamental value due to their diverse fruit morphologies, colors, spiciness levels, and stress resistance. Historically, …
Read PDFBACKGROUND: Genomic imprinting at the 11p15.5 region is critically involved in fetal growth regulation. Disturbances in this region are primarily associated with two opposing growth disorders: Silver-Russell syndrome (SRS, growth restriction) and Beckwith-Wiedemann syndrome (BWS, …
Read PDF<h4>Objective</h4>This study completed the karyotyping of a patient with a complex chromosomal insertion and identified the location of the breakpoint for implementing preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) to differentiate between normal and …
Read PDFAccurate detection of insertions and deletions (indels) is critical for applications in disease genomics, population genetics, and personalized healthcare. Despite advancements in sequencing technologies, indel detection remains challenging, particularly in difficult-to-map genomic regions. In this …
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