Unravelling the genetics and epigenetics of the ageing tumour microenvironment in cancer
de Magalhaes, J. P. How ageing processes influence cancer. Nat. Rev. Cancer 13, 357–365 (2013). Article PubMed Google…
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program
Enrollment rates Between 28 September 2023 and 10 June 2024 (~8.5 months), a total of 2,125 newborns were enrolled.…
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+)
Capone VP, Morello W, Taroni F, Montini G. Genetics of congenital anomalies of the kidney and urinary tract:…
Improving broad-spectrum resistance to clubroot disease with one gene
Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. This…
A multi-tissue single-cell expression atlas in cattle
The scope of CattleCA After removing low-quality cells and doublets (Methods, Supplementary Fig. 1 and Supplementary Tables 1…
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…