Categoría: Articulos
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Position statement from the Italian Society of Human Genetics (SIGU) on the implementation of germline pharmacogenetic testing
European Journal of Human Genetics, Published online: 03 April 2026; doi:10.1038/s41431-026-02033-wPosition statement from the Italian Society of Human Genetics (SIGU) on the implementation of germline pharmacogenetic testing
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Certified Reference Materials for Standardization of cfDNA Isolation Recovery in Liquid Biopsy
Reliable quantification of cell-free DNA (cfDNA) in liquid biopsy diagnostics critically depends on unbiased and reproducible isolation workflows. Fragment-length-dependent recovery during isolation represents a major source of pre-analytical bias. Thi…
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Oncogenicity Variant Interpreter (OncoVI): oncogenicity guidelines implementation to support somatic variants interpretation in precision oncology
Accurate and reproducible interpretation of somatic variants is fundamental for therapy decision-making in cancer patients. To harmonise and automate oncogenicity classification, Oncogenicity Variant Interpreter (OncoVI), an open-source, Python-based i…
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Validation of a Low-Volume (100 μL) Plasma Protocol for HIV-1 RNA Quantification Using the Hologic Aptima HIV-1 Quant Dx Assay
Pediatric HIV-1 viral load monitoring is often limited by the small blood volumes that can be safely obtained from infants and young children. Standard assays typically require 0.5–0.7 mL of plasma, which can pose challenges in these settings. This stu…
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Advances in genomic medicine: from diagnosis to patient perspectives
European Journal of Human Genetics, Published online: 02 April 2026; doi:10.1038/s41431-026-02088-9Advances in genomic medicine: from diagnosis to patient perspectives
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Correction: The development and usability of ‘The Genetics Navigator’: a digital solution for adult and paediatric clinical genetics services
European Journal of Human Genetics, Published online: 02 April 2026; doi:10.1038/s41431-026-02094-xCorrection: The development and usability of ‘The Genetics Navigator’: a digital solution for adult and paediatric clinical genetics ser…
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Correction: Comprehensive analysis of <i>CNOT3</i>-related neurodevelopmental disorders: phenotypic and genotypic characterization
European Journal of Human Genetics, Published online: 02 April 2026; doi:10.1038/s41431-026-02087-wCorrection: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
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Multi-ancestry transcriptome prediction with functionally informed variants in TOPMed MESA improves performance of transcriptome-wide association studies
We proposed methods leveraging functionally informed variants for multi-ancestry transcriptome prediction and demonstrated improvements on multi-ancestry TWAS performance. Our proposed omnibus approach, which aggregates TWAS results, further improves T…
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Associations of genetic variants with gene expression factors reveal biological pathways underlying complex traits
GWASs have identified thousands of trait-associated variants, yet their downstream mechanisms remain unclear. By linking variants to pathway-level expression factors and developing the effect consistency test, we uncover biological pathways mediating i…
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This month in The Journal
Polygenic risk scores (PRSs) are promising tools that have the potential to help translate findings from genetic association studies into clinically meaningful health insights. As work on PRSs has increased, it has become clear that the accuracy of the…