DNA methylation influences human centromere positioning and function
This study complied with all relevant local ethical regulations. Approval for the use of ICF patients’ fibroblasts was…
Closing the gap in HCV care: strategic collaboration between industry, academic, community, and nonprofit researchers
Simplified care cascades with easier treatment access are needed to ensure optimal treatment uptake with minimal patient loss…
Chromatin dynamics of a large-sized genome provides insights into polyphenism and X0 dosage compensation of locusts
Chromosome-level assembly of the migratory locust We conducted genome sequencing on an adult female locust with a heterozygosity…
Cross-biobank generalizability and accuracy of electronic health record-based predictors compared to polygenic scores
Ethics declarations Patients and control participants in FinnGen provided informed consent for biobank research, based on the Finnish…
Graph retrieval augmented large language models for facial phenotype associated rare genetic disease
Knowledge graph construction First, our research conducted a comprehensive search of the Pubmed database using search terms generated…
CRISPR screening by AAV episome-sequencing (CrAAVe-seq): a scalable cell-type-specific in vivo platform uncovers neuronal essential genes
Animals All mice were maintained according to the National Institutes of Health guidelines and all procedures used in…
Precise modulation of BRG1 levels reveals features of mSWI/SNF dosage sensitivity
BRG1 binding exhibits a linear response to its dosage In mES cells, Brg1 encodes the major catalytic subunit…
Tamoxifen induces PI3K activation in uterine cancer
Ethics statement This study complies with all relevant ethical regulations. TAMARISK specimens were obtained and sequenced with the…
Prenatal Variants of Uncertain Significance (VUS): to report or not to report?
Lord J, McMullan DJ, Eberhardt RY, Rinck G, Hamilton SJ, Quinlan-Jones E, et al. Prenatal exome sequencing analysis…
KidneyGenAfrica, a pan-African partnership to deliver research and training excellence in genomics of kidney disease
Precision Healthcare University Research Institute, Queen Mary University of London, London, UK Segun Fatumo, Oyesola Ojewunmi, Rebecca Camenzuli, Christopher Kintu & Claudia Langenberg…
Tracing the evolution of single-cell 3D genomes in Kras-driven cancers
Ethics Statement All animal studies were approved by the Institutional Animal Care and Use Committee of Yale University.…
Neurobehavioral profile of individuals with pathogenic variants in CHD3
Global, regional, and national incidence, prevalence, and years lived with disability for 354 diseases and injuries for 195…