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BACKGROUND: Recent genome-wide association studies for Alzheimer’s Disease and related dementias (ADRD) have increased statistical power via larger analysis datasets from biobanks by (1) including non-age-matched controls and prevalent cases, and/or (2) including individuals who …
Read PDFUnderstanding antigen reactivity is crucial for characterizing CD4<sup>+</sup> T helper (Th) cell fate, yet conventional peptide restimulation assays introduce phenotypic bias by activating cells <i>ex vivo</i>. By combining single-cell RNA and T cell receptor (TCR) …
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Read PDF<h4>Objective</h4>To explore the clinical and genetic features both spinal muscular atrophy (SMA) and Duchenne muscular dystrophy (DMD) diagnosed in a child.<h4>Methods</h4>A child was diagnosed with SMA combined with a duplication of exons 2-20 in the …
Read PDFBACKGROUND: Comparative studies of mitochondrial genomes can assist in determining evolutionary and phylogenetic relationships. In the Ceratocystidaceae fungal family, mitochondrial genomes from only two genera are publicly available. In this study, mitochondrial genomes from 10 …
Read PDFVariability of the genomes of cellular organelles (chloroplast and mitochondria) is an important component of the overall variability of the plant genome. A large amount of data has already been obtained on the comparative characteristics …
Read PDF<i>Leuconostoc mesenteroides</i> RAMULABWGS02, isolated from fermented kodo millet (<i>Paspalum scrobiculatum</i>), was subjected to whole-genome sequencing to generate a genomic dataset for functional and comparative analysis. Fermented millet, rich in complex carbohydrates and polyphenols, supports the …
Read PDFMeningiomas are prevalent intracranial tumors with poorly understood extraneural drivers. While the gut-brain axis influences neuro-oncogenesis, meningioma-specific gut microbiome alterations and their clinical implications remain uncharacterized. This study integrated 16S rRNA sequencing of fecal samples …
Read PDFIntegrated chem-bio characterization of microbial strain libraries can streamline natural product discovery by prioritizing candidate producers. Here, we employ language- and transformer-based models to extract actionable insights from linked mass spectrometry (MS)-genome datasets. Our framework …
Read PDFSalinity severely limits global crop productivity, prompting a need to uncover plant salinity adaptation strategies. Suaeda salsa (L.) Pall., a halophyte thriving in saline habitats, offers a valuable model to dissect plant growth mechanisms under …
Read PDFBACKGROUND: Hereditary hearing loss (HL) is a highly heterogeneous disorder that follows various inheritance patterns. Variants of MYO6 gene in DFNA22 are characterised by progressive post-lingual sensorineural HL of varying severity. PATIENTS AND METHODS: Five-generation …
Read PDFClinical text de-identification enables the use of electronic health records while protecting patient privacy, but public training data remain scarce and often have mismatched documentation styles. Recent works have proposed using large language models (LLMs) …
Read PDFFew external quality assurance programs adequately address the complexity of largescale human genome or exome analysis. To bridge this gap, Australian Genomics and the Royal College of Pathologists of Australasia Quality Assurance Programs (QAP) developed …
Read PDFCancer functional genomics enables high-throughput target discovery and mechanistic investigation, yet its application has remained largely confined to mouse models and established human cancer cell lines. Direct functional interrogation of heterogeneous primary tumors offers a …
Read PDFAgriculture plays a crucial role in the development of countries whose economies rely heavily on food production. In the face of climate change and growing global population, plant breeders are challenged to adopt more efficient …
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Read PDF<h4>Background</h4>Dystrophinopathies are X-linked recessive neuromuscular disorders caused by pathogenic variants in the dystrophin gene (<i>DMD</i>). Down syndrome (DS) and Turner syndrome (TS) are well-characterized chromosomal conditions; however, their co-occurrence with monogenic disorders such as Duchenne …
Read PDF<h4>Introduction</h4>Oncology is a data-rich environment reflecting the increasing incidence of cancer in the US aging population, transformation of cancer into a chronic disease due to advances in treatment, and the emergence of new data categories …
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