Genetics Papers of the Week

This study combines a cohort-based analysis with a critical methodological reassessment of NGS diagnostic yield in POI.

This study investigated the protective effects and underlying mechanisms of retinoic acid (RA) against PM2.5-induced lung injury and accelerated atherosclerosis.

Here, we compared FLASH-RT versus conventional radiotherapy (CONV-RT) in murine glioma GL261 cells and primary healthy astrocytic cultures, focusing on redox dynamics, mitochondrial function, bioenergetics, and transcriptional stress programs.

This article aims to present the specific contribution of population genetics and evolutionary genetics to the molecular tracing of epidemiological routes in bacteria pathogenic to humans and animals.

In this study, reverse transcription quantitative PCR was used to examine the gene expression changes of 15 DEAD-box family members in the intestinal tissues of one-month-old PEDV-infected piglets.

In this article, we investigated the role of IL-4/IL-13 signalling in LS in a randomised, placebo-controlled clinical trial (ClinicalTrials.gov registration: NCT04200755).

We introduce cutting-edge single-cell epigenomic mapping technologies, their bone tissue-specific adaptations, and analytical frameworks for multi-omics data integration.

Here we performed multiomics analyses (chromatin immunoprecipitation sequencing, CUT&Tag, ATAC-seq, and RNA sequencing) on psoriatic lesions, perilesional skin, healthy skin, and M5-stimulated HaCaT cells.

We investigated BAHCC1 in human restenotic and atherosclerotic arteries and in rat and mouse arterial injury models using BAHCC1 silencing, SMC-specific deletion, and an H3K27me3-binding-deficient knock-in mutation.

Here we describe phase 1 of TenK10K, which leverages single-cell RNA sequencing data from more than 5 million cells across 28 immune cell types, along with matched whole-genome sequencing data from 1,925 individuals.

Here we generate whole-genome and single-cell RNA sequencing from more than 5.4 million blood-derived cells across 1,925 individuals in two cohorts , and perform meta-analysis to characterize the impact of variation in more than 1.7 million TR loci on immune cell type-specific gene expression.

However, genome-wide characterization of methylation patterns across cell types and tissues remains a major challenge. Here, to address this, we present a framework that enables systematic genome-wide analysis of methylation and sequence-based prediction of context-specific methylation effects of variants.

Here we analysed data from 109,479 cases, 74,141 proxy cases, 2,131,799 controls and 499,708 proxy controls from diverse ancestries, identifying 118 loci in a multi-ancestry analysis and 9 additional loci in ancestry-specific analyses, 48 of which are new.

However, major toxicities include prolonged cytopenias, infection and secondary hematologic malignancies. Here, to investigate these complications, we studied patients with lymphoma receiving CAR19 and compared clinical outcomes to propensity-matched autoHCT-treated controls.

We performed region-stratified single-cell RNA sequencing across the adult body and mapped cell types and gene expression at single-cell resolution using spatial transcriptomics.

Here we use genetic multiplexing to generate population-scale single-nucleus chromatin accessibility (single-nucleus assay for transposase-accessible chromatin using sequencing (snATAC-seq)) and transcriptome (single-nucleus RNA sequencing (snRNA-seq)) maps across 287 frozen human skeletal muscle biopsies.

This work highlights the need for more nuanced examination of the similarities and distinctions in the associations between PTSD and alcohol consumption versus AUD.

To investigate IMNM pathogenesis, we applied spatial transcriptomics on myositis muscle biopsies and integrated the results with published single-nucleus transcriptomic data. This combined approach enabled analysis of gene expression with spatial localisation in the muscle.

In this study, we investigated the role of NNMT in dermal fibroblast (DF) activation and fibrosis in SSc.