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<h4>Introduction</h4>After a patient receives genetic test results that indicate an actionable health condition, cascade genetic screening (CGS) is the process of evaluating the patient's relatives for a potentially elevated genetic risk of disease. The United …
Read PDFREs play critical roles in modulating gene expression and shaping phenotypic diversity; however, their evolutionary dynamics in pigs remain incompletely understood. Based on genome alignments across 13 species, we characterized the hierarchical structure of REs …
Read PDFPhytoplasmas are insect-transmitted plant pathogens that manipulate host development through secreted effector proteins. While they are notorious for causing agricultural losses, in the ornamental plant poinsettia (<i>Euphorbia pulcherrima</i>), phytoplasma infection is uniquely harnessed to induce …
Read PDFBACKGROUND: 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 …
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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 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 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 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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