Search the literature by keyword, topic, or author. Filter to articles with full text available.
307 results
<h4>Introduction</h4>Alterations involving RUNX1 are recurrent in hematologic malignancies and contribute to disease pathogenesis via dysregulation of transcriptional factors essential for hematopoiesis. Here, we report an acquired alteration in both alleles of RUNX1; one is a …
Read PDFThe identification of cancer drivers is a cornerstone to the delivery of precision oncology. So far, sequencing of renal cell cancer (RCC) has largely been confined to the clear cell subtype of RCC. In contrast, …
Read PDFThe reference genome serves as a fundamental resource for sheep genetic research and molecular breeding, and iterative improvements in assembly quality have directly driven advances in these fields. A systematic literature review was conducted by …
Read PDFThe CNTNAP2 gene encodes CASPR2, a transmembrane protein essential for neuronal development and synaptic function. Biallelic pathogenic variants cause Pitt-Hopkins-like syndrome, characterized by intellectual disability, epilepsy, and autistic features. We report two patients with a …
Read PDFNo abstract available.
Read PDFExosomes play a crucial role in tumor progression. However, reliable exosome-related biomarkers for predicting prognosis in gastric cancer (GC) remain scarce. This study is aimed at developing an exosome-related gene risk signature (ERGRS) to predict …
Read PDFThis review aims to provide a comprehensive overview of recent advances in the genomics of multiple myeloma and their clinical implications. Multiple myeloma is a hematologic malignancy originating from bone marrow plasma cells, characterized by …
Read PDFRising atmospheric CO₂ levels necessitate the development of effective carbon capture strategies. Some species of microalgae, with their high growth rates and exceptional CO₂ fixation efficiency—up to 10–50 times greater than terrestrial plants—represent a promising …
Read PDFElement Biosciences' avidity sequencing has emerged as a competing technology to Illumina's short-read sequencing platform. Prior benchmarks of avidity sequencing have not included the latest Illumina NovaSeq X/X Plus instruments with XLEAP chemistry. Here, we …
Read PDFThe Chicken Genotype-Tissue Expression (ChickenGTEx) project was established to systematically characterize the regulatory landscape of the chicken genome and to accelerate the translation of functional genomics into precision breeding. By integrating whole-genome sequencing with multi-tissue …
Read PDFCopy number variations (CNVs) are major sources of genetic variation, affecting large portions of genomes. Typical CNVs are known to have short evolutionary half-lives due to deleterious effects, with documented events of adaptive evolution. However, …
Read PDF<h4>Summary</h4>Duplex-Indel is a novel Snakemake workflow for detecting somatic small insertions and deletions (Indels) from Tn5 transposase-based duplex sequencing data. Duplex-Indel enhances the accuracy of mutation calling at the single-molecule level by requiring consensus support …
Read PDF<h4>Motivation</h4>Changes in genome organisation contribute to genetic disease when they disrupt gene function or regulation. Structural rearrangements may interrupt coding sequence or alter expression through promoter loss or gain, chromatin changes, copy-number variation, or disruption …
Read PDF<h4>Motivation</h4>Haplo2D6 is a free, browser-based tool that automates the translation of <i>CYP2D6</i> genotype data into metabolizer phenotypes. Using haplotype reconstruction with the PHASE algorithm, integration of copy number variation estimates, and curated definitions from ClinPGx …
Read PDF<h4>Summary</h4>Liquid biopsy offers a non-invasive approach to study tumor-derived genetic material circulating in plasma. Beyond genetic alterations, the fragmentomic features of cell-free DNA-such as fragment size, genomic position, and end-motifs-provide valuable insights into the biological …
Read PDF<h4>Summary</h4>PULPO v1.0 is a novel; fully automated pipeline designed for the preprocess and extraction of mutational signatures from raw Optical Genome Mapping (OGM) data. Built using Snakemake and executed within an isolated, Conda-managed environment, PULPO …
Read PDF<h4>Background</h4>Structural variants (SVs) are increasingly recognized as key contributors to human diseases. However, our understanding of SVs in health and disease is limited, mainly due to their structural complexity and variable length in individuals, as …
Read PDF