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<h4>Objective</h4>To evaluate the performance of the genomic analytics applied to the Northern Ireland cohort recruited to the 100,000 Genomes Project, focusing on diagnostic yields in first-line analysis and revisiting inconclusive cases with rare diseases.<h4>Methods</h4>Whole genome …
Read PDF<h4>Background</h4>Severe fever with thrombocytopenia syndrome (SFTS) is a tick-borne viral disease caused by Dabie bandavirus, associated with high morbidity and mortality. Neurological complications such as encephalopathy are increasingly recognized and are linked to poor prognosis. …
Read PDFWe report the genome sequences of 15 <i>Escherichia coli</i> O77g strains belonging to the O17, O44, O73, O77, and O106 antigen cluster. Strains of <i>E. coli</i> O77g have been associated with hemolytic uremic syndrome (HUS) …
Read PDF<h4>Background</h4>Spatial multi-omics techniques provide powerful tools to decipher tissue architectures in multilayer perspectives, including gene expressions, gene regulations and microenvironments. The multimodal data integration is a critical step in spatial multi-omics data processing involved in …
Read PDFFunctional genomics offers a powerful, unbiased approach to elucidating the molecular mechanisms underlying the toxicity of environmental pollutants. In this study, we applied genome-wide screening in <i>Chlamydomonas reinhardtii</i> to investigate two classical herbicides: paraquat and …
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Read PDFPredicting the genetic consequences of population decline is a major problem in conservation genomics. Time lags following demographic bottlenecks can delay genomic erosion and make it difficult to determine a population's current and future risk, …
Read PDF<h4>Background</h4>Pathogenic variants involving the transcription factor TBX4 gene have been associated with various skeletal and pulmonary abnormalities, including lethal lung developmental disorders (LLDD).<h4>Methods</h4>Whole-genome sequencing (WGS) with AI-powered platform for variant detection and interpretation followed by …
Read PDFA dramatic increase in knowledge regarding the molecular biology of brain has been established over the past few years [...].
Read PDFChronic granulomatous disease (CGD) is an inherited immunodeficiency characterized by impaired phagocytic function due to defects in the NADPH oxidase complex. This enzymatic deficiency compromises the production of reactive oxygen species required for microbial killing, …
Read PDFPulmonary disease caused by non-tuberculous mycobacteria (NTM-PD) is an emerging global health concern. Among NTM, <i>Mycobacterium avium</i> subsp. <i>hominissuis</i> (MAH) is the major causative agent of NTM-PD. Similar to <i>Mycobacterium tuberculosis</i>, MAH exhibits lineage-specific geographical …
Read PDF<h4>Background</h4>Scientific advances and cost efficiencies in genetics and genomics are expanding clinical application for prevention, diagnosis, and treatment.<h4>Objective</h4>PCORnet®, a research network that includes participation from 78 health systems nationally and is linked to more than …
Read PDFThe demand for sustainable agriculture has shifted bioprospecting towards microbial bioinputs as alternatives to chemical fertilisers and pesticides. Whole-genome sequencing accelerates the discovery of plant-growth-promoting bacteria (PGPB) by enabling the identification of functional genes and …
Read PDFMany useful quantities in conservation genomics are point estimates that summarise genetic variation at the population or species level. This presents a challenge to the application of null hypothesis testing frameworks, which require some measure …
Read PDFReproductive genetic carrier screening (RGCS) identifies people who have an increased chance of having a child with a serious genetic condition. In Australia, since November 2022, RGCS for three conditions, cystic fibrosis, spinal muscular atrophy, …
Read PDFBACKGROUND: The Arabian horse is a culturally and historically influential breed that has contributed to the development of many modern horse populations. However, genomic resources for this breed remain limited, particularly population-level allele frequency datasets …
Read PDFTreatment failure and relapse remain major challenges in leishmaniasis despite available chemotherapies. Historically, these outcomes have been interpreted through the lens of classical drug resistance driven by heritable genetic mutations. However, drug responses are increasingly …
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