Genomics & Functional Genomics
- A genetic screen to uncover mechanisms underlying lipid transfer protein function at membrane contact sites
A genetic screen in Drosophila photoreceptors uncovers multiple regulators of lipid transfer function and endoplasmic reticulum–plasma membrane contact sites.
- Mapping parental DMRs predictive of local and distal methylome remodeling in epigenetic F1 hybrids
We show that parental DNA methylation divergence in pericentromeric regions predicts non-additivity in the methylomes, transcriptomes, and phenotypes of F1 hybrids, independently of DNA sequence divergence.
- Integrated analysis of RNA-seq datasets reveals novel targets and regulators of COVID-19 severity
This work observed differential expression of genes related to the endomembrane system, specific granules, T cell receptor complex, and SPI1 and TP53 target genes exclusively in severe COVID-19 patients.
- Single variant, yet “double trouble”: TSC and KBG syndrome because of a large de novo inversion
Short-read genome sequencing identified an 87-Mb inversion in a patient with atypical Tuberous sclerosis. The inversion disrupts TSC2 and ANKRD11, resulting in dual diagnosis of TSC/KBG syndromes.
- Enhancer mutations modulate the severity of chemotherapy-induced myelosuppression
Using transcriptome and interactome maps with patients’ WGS, this research uncovers the role of noncoding mutations in the myelosuppression predisposition, advancing personalized cancer treatment.
- Gene architecture is a determinant of the transcriptional response to bulky DNA damages
A comparative genomic study of the transcriptomic response to bulky DNA damages uncovers novel response genes and the features of their structure that allow them to be better repaired and transcribed.
- Extreme trait GWAS (Et-GWAS): Unraveling rare variants in the 3,000 rice genome
Using extreme bulk pooling and allele frequency assessment, the graphical user interface (GUI)-enabled association technique successfully revealed relationships between genetic variations and grain yield under drought stress condition.
- Common analysis of direct RNA sequencinG CUrrently leads to misidentification of m5C at GCU motifs
Published predictions of 5-methylcytosine at GCU sites inferred from direct RNA sequencing and the Tombo Alternative Model should be reconsidered unless further validated with orthogonal methods.
- Enhancer-driven 3D chromatin domain folding modulates transcription in human mammary tumor cells
The study shows that estrogen activates transcription within pre-established chromosomal 3D architectures, strengthening enhancer interactions through local accumulation of the estrogen receptor α.
- Suppressed transcript diversity and immune response in COVID-19 ICU patients: a longitudinal study
This integrative longitudinal clinico-genomic study delves deep into the gene and transcript expression pattern dynamics in severe COVID-19 patients with ARDS admitted to the ICU.