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The Ethics Session of the International Primary Immunodeficiency Congress (IPIC), held in November 2025 and organised by the International Patient Organisation for Primary Immunodeficiencies (IPOPI), examined one of the most challenging developments emerging from genomic-enhanced …
Read PDF<h4>Motivation</h4>Multi-omics integration methods are now common in cancer studies, but results remain sensitive to design choices, including when fusion occurs, what is fused, and how missingness is handled. As a result, it is difficult to …
Read PDFGenetic variants in RNU4-2, which is transcribed into the U4 small nuclear RNA component of the major spliceosome, were recently shown to cause ReNU syndrome, a prevalent dominant neurodevelopmental disorder (NDD). These variants almost exclusively …
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Read PDFOver the past two decades, genetic testing has undergone major shifts in its accessibility and in its nature. Historically, it primarily involved analysis of single genes selected on the basis of symptoms or family history, …
Read PDF<i>Shigella</i> spp., and <i>Escherichia coli</i> exhibit notable genomic and phenotypic similarities, including serologically and genetically related somatic antigens. For example, the relationship among pathogenic strains <i>E. coli</i> 64474, O179, O188, and <i>S. boydii</i> O16 suggests …
Read PDFBACKGROUND: Human genomics involves generating, processing, storing, using and sharing immense amounts of information. This will only increase given efforts to embed whole genome sequencing into mainstream clinical practice. However, as society becomes more conscious …
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 PDFThe rapid expansion of genomic science has reshaped healthcare delivery, creating new demands for interdisciplinary collaboration and highlighting the need to integrate genomics into nursing practice and education. This qualitative study explored how multidisciplinary genomic …
Read PDF<h4>Setting</h4>Despite maintaining a low TB incidence (<10/100,000 population) for decades, progress towards TB elimination targets in Australia remains elusive.<h4>Objective</h4>We describe innovative approaches to improve TB care and control and programmatic components implemented to advance local …
Read PDFNeurodevelopmental disorders (NDDs) affect 2-4% of the population, are predominantly genetic and remain unsolved in ~50% of individuals. We show that rare biallelic variants in RNU2-2 are enriched and over-transmitted in individuals with unresolved NDDs. …
Read PDFClimate-change-driven abiotic stresses, once regarded as episodic constraints for major staple crops, are now main selective forces driving the agronomic and evolutionary trajectories of plants [...].
Read PDFMycoheterotrophic plants rely entirely on fungal symbionts for nutrients, yet the role of intraspecific genomic variation in shaping symbiotic adaptation remains unclear. <i>Gastrodia elata</i> is a mycoheterotrophic orchid with multiple cultivated varieties. Here, we generated …
Read PDFBACKGROUND: Branchio-oto-renal (BOR; MIM 113650) syndrome is primarily linked to pathogenic variants in the EYA1 gene. Although over 200 pathogenic variants of the EYA1 gene have been reported, validation of the pathogenicity of novel variants …
Read PDF<i>Brucella melitensis</i> is the most virulent <i>Brucella</i> species causing human brucellosis. We report here the assembled and annotated genome sequence of <i>Brucella melitensis</i> isolates BBM21 and BVC23 obtained from two different patients in Karnataka, India. …
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