Categoría: Articulos
-
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
-
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…
-
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
-
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…
-
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…
-
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…
-
Multi-omics analysis to identify the dynamic changes of immune cells and marker genes in renal fibrosis
IntroductionRenal fibrosis is a common pathological feature of chronic kidney disease and a major driver of progression to end-stage renal disease, but its molecular mechanisms remain incompletely understood.MethodsWe integrated multi-omics datasets fr…
-
Functional inactivation of MDR3 caused by a homozygous ABCB4 missense variant leading to liver failure
Progressive familial intrahepatic cholestasis (PFIC) is a rare hereditary liver disorder that is caused by defective hepatobiliary transport. Variants in ATP binding cassette 4 ( ), encoding phosphatidylcholine floppase MDR3, are a frequent cause; howe…
-
Genetic association of LOC100130476 rs80213143 with susceptibility and renal involvement in systemic lupus erythematosus
BackgroundsSystemic lupus erythematosus (SLE) is an autoimmune disease with multi-organ involvement, and lupus nephritis (LN) is a severe manifestation. Long non-coding RNAs (lncRNAs) have been implicated in regulating immune responses in autoimmune di…