Genomics & Functional Genomics
STAT5B leukemic mutations, altering SH2 tyrosine 665, have opposing impacts on immune gene programsGermline activating and deactivating mutations of STAT5b, part of the JAK-STAT signaling pathway, push the immune system and hematopoiesis in opposing directions, tuning systems either up or down.
DAF-18/PTEN protects LIN-35/Rb from CLP-1/CAPN-mediated cleavage to promote starvation resistanceDAF-18/PTEN acts independently of insulin/IGF signaling to promote starvation resistance via LIN-35/Rb and the DREAM complex in C. elegans L1 arrest.
Shared requirement for MYC upstream super-enhancer region in tissue regeneration and cancerA region located upstream of the MYC oncogene that carries more risk for inherited cancer than any other human genomic region is required for intestinal regeneration.
Efficient identification of de novo mutations in family trios: a consensus-based informatic approachResearchers developed a highly precise and accurate approach for identifying de novo genetic variants in probands from trio genome sequencing, making it suitable for automated large-scale analyses.
Unraveling ADHD: genes, co-occurring traits, and developmental dynamicsIn this study, we identify genes putatively causal for ADHD and show how their biological pathways link to co-occurring traits and biomarkers in a tissue- and time-dependent manner.
Human genetic variants in SLC39A8 impact uptake and steady-state metal levels within the cellThis report investigates the effect of 21 variants in the hSLC39A8 gene experimentally on protein expression, localization, and uptake of metal ions, and computationally on dimerization stability.
Gastric cancer genomics study using reference human pangenomesUsing a concept called graph pangenome for many individual genomes as the baseline can improve the identification and characterization of large-sized genomic variations for disease genomics study.
Genetic modulation of RNA splicing rescues BRCA2 function in mutant cellsThis study provides proof of principle for the therapeutic potential of splicing modulation as a strategy to rescue BRCA2 function in mutant cells.
Systematic assessment of structural variant annotation tools for genomic interpretationThis study benchmarks eight structural variant prioritization tools, highlighting their comparable effectiveness in predicting pathogenicity and providing insights for improved genomic research.
Membrane transporters modulating the toxicity of arsenic, cadmium, and mercury in human cellsThis study employs CRISPR/Cas9 loss-of-function screens to simultaneously investigate the contribution of the entire transportome to regulating the toxicity of arsenic, cadmium, and mercury in human cell lines.