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http://dx.doi.org/10.1002/pd.1586 | DOI Listing |
Microbiol Resour Announc
January 2025
Department of Livestock Infectiology and Environmental Hygiene, University of Hohenheim, Stuttgart, Germany.
Resolving the molecular basis of a Mendelian condition remains challenging owing to the diverse mechanisms by which genetic variants cause disease. To address this, we developed a synchronized long-read genome, methylome, epigenome and transcriptome sequencing approach, which enables accurate single-nucleotide, insertion-deletion and structural variant calling and diploid de novo genome assembly. This permits the simultaneous elucidation of haplotype-resolved CpG methylation, chromatin accessibility and full-length transcript information in a single long-read sequencing run.
View Article and Find Full Text PDFMol Cell Proteomics
January 2025
Center for Chromosome Stability, Institute for Cellular and Molecular Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen 2200, Denmark.
Accurate genome duplication requires a tightly regulated DNA replication program, which relies on the fine regulation of origin firing. While the molecular steps involved in origin firing have been determined predominantly in budding yeast, the complexity of this process in human cells has yet to be fully elucidated. Here, we describe a straightforward proteomics approach to systematically analyse protein recruitment to the chromatin during induced origin firing in human cells.
View Article and Find Full Text PDFGenomics
January 2025
Shennong Laboratory/ Henan Academy of Crop Molecular Breeding, Henan Academy of Agricultural Sciences/Henan Provincial Key Laboratory for Oil Crops Improvement, Zhengzhou 450002, China. Electronic address:
High-oleic peanuts are increasingly valued in agricultural production and consumer markets. Nevertheless, limited genomic information hinders the integration of genetic analyses and modern breeding strategies. This study details a chromosome-level genome assembly of Kaixuan 016, a high-oleic peanut variety developed through gamma-radiation-assisted breeding, exhibiting enhanced agronomic traits.
View Article and Find Full Text PDFPrenat Diagn
January 2025
Center for Fetal Medicine and Pregnancy, Department of Gynecology, Fertility, and Pregnancy, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark.
Objective: To evaluate the prevalence of chromosomal aberrations in fetuses with isolated PRUV in a nationwide cohort with 1st-trimester screening for aneuploidies.
Method: A retrospective study including all pregnancies in Denmark with a due date between 2010 and 2022. We retrieved all cases from patient files, where we searched for "PRUV" in the conclusion field.
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