Genomics & Functional Genomics
Prenatal risk assessment of Xp21.1 duplication involving the DMD gene by optical genome mappingIt classifies the Xp21.1 duplications involving 5′-terminal DMD in prenatal case series as likely benign using OGM, which emphasizes the importance of structural evaluation on SVs involving DMD and other large dose-sensitive genes.
A scalable approach to topic modelling in single-cell data by approximate pseudobulk projectionRandom projection of pseudobulk gene expression data improves the scalability and accuracy of single-cell topic modelling.
Transient chromatin decompaction at the start of D. melanogaster male embryonic germline developmentOur genomics profiling of the earliest fruit fly germline revealed a brief window of major chromatin remodeling in the male germline right after zygotic activation and suggests reprogramming in the early stages of germline to be an evolutionarily conserved phenomenon.
Substrate diversity of NSUN enzymes and links of 5-methylcytosine to mRNA translation and turnoverThis study emphasises the emerging diversity of both, m5C writers and readers, affecting mRNA function and provides multiple new leads for future epitranscriptomic research.
Single-housing–induced islet epigenomic changes are related to polymorphisms in diabetic KK miceThis study demonstrates that non-coding variants in KK mice, a polygenic model of type 2 diabetes, may be involved in the development of diabetes via epigenetic mechanisms during social isolation.
- Correction: Reduced protein-coding transcript diversity in severe dengue emphasises the role of alternative splicing
Transcriptomic analysis of dengue-infected patients reveals altered immune response pathways, transcript diversity, and splicing efficiency, underscoring potential therapeutic targets for treatment.
The importance of DNA sequence for nucleosome positioning in transcriptional regulationMachine learning on DNA sequences shows that nucleosomes are positioned by DNA sequence patterns to support the stages of transcription by directing competition between nucleosomes and transcription factors, as well as regulating RNA polymerase II dynamics.
Reduced protein-coding transcript diversity in severe dengue emphasises the role of alternative splicingTranscriptomic analysis of dengue-infected patients reveals altered immune response pathways, transcript diversity, and splicing efficiency, underscoring potential therapeutic targets for treatment.
Novel variants in TECRL leading to catecholaminergic polymorphic ventricular tachycardiaWe report two novel pathogenic variants in the TECRL gene associated with recessive catecholaminergic polymorphic ventricular tachycardia and extend on the clinical features associated with this rare genetic variant.
Ribosome rescue factor PELOTA modulates translation start site choice for C/EBPα protein isoformsAlternative translation initiation on a single mRNA can generate distinct protein isoforms. This work finds that the ribosome rescue factor, PELOTA, influences start site choice on the developmental transcription factor, C/EBPα.