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Motivation: Data visualization is increasingly important in genomics, enabling researchers to uncover inheritance and recombination patterns across generations. While most existing tools focus on ancestry prediction, they lack functionality for analyzing known ancestries in controlled settings, such as determining parental contributions to offspring genomes. To address this gap, I developed pepa, a lightweight, deterministic, modular tool that visualizes and quantifies genomic inheritance, designed for beginner and advanced users.
Results: pepa is a program for processing VCF files, assigning ancestries to homozygous SNPs, and clustering them into biologically meaningful regions. It generates human-readable comparison tables and visualizes inheritance patterns with chromosome paintings through R. Tested on fission yeast, pepa revealed non-uniform recombination patterns, with chromosomes largely inherited from one parent and seemingly random recombination. Quantitative analyses showed differences in parental contributions at the nucleotide and gene levels, with some offspring inheriting similar percentages from parents. However, the painted chromosomes revealed that even offspring with similar percentages from one parent rarely inherit the same genomic region, highlighting the importance of this tool in drawing biologically meaningful insights. pepa provides an accessible and powerful solution for analyzing genomic inheritance, bridging experimental and computational biology. Its modular design and minimal dependencies allow adaptation to diverse organisms, facilitating intuitive visualization and quantitative insights into recombination dynamics.
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http://dx.doi.org/10.1093/bioinformatics/btaf428 | DOI Listing |
Front Genet
August 2025
Affiliated Hospital of Zunyi Medical University, Zunyi, China.
Background And Objective: Parental chromosomal structural variations (SVs) represent a primary genetic factor contributing to recurrent spontaneous abortion (RSA). Individuals carrying SVs with complex chromosomal rearrangements (CCRs) typically exhibit a normal phenotype but are at an increased risk of miscarriage. Current standard clinical detection methods are insufficient for the identification and interpretation of all SV types, particularly complex and occult SVs, thereby presenting a significant challenge for clinical genetic counseling.
View Article and Find Full Text PDFFront Med (Lausanne)
August 2025
Department of Medical Oncology, Kindai University Faculty of Medicine, Osakasayama, Japan.
Background: Pancreatic ductal adenocarcinoma (PDAC) is one of the most lethal malignancies, with limited treatment options and poor prognosis. Recent advances in cancer genomic analysis enable the identification of actionable gene alterations, opening new opportunities for personalized therapy. Among these, homologous recombination DNA repair (HRR) gene alterations are associated with distinct biological behavior, favorable prognosis, and increased sensitivity to platinum-based chemotherapy.
View Article and Find Full Text PDFBiochim Biophys Acta Mol Basis Dis
September 2025
Department of Cardiology, the Second Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang Province, China; State Key Laboratory of Frigid Zone Cardiovascular Disease, Harbin, 150086, Heilongjiang, China; The Key Laboratory of Myocardial Ischemia, Harbin Medical University, Ministry
Background And Aims: Viral myocarditis is an inflammatory pathology of the myocardium that involves innate immune responses, especially those involving neutrophils. However, strategies targeting neutrophils to alleviate inflammation have not achieved complete success. Alpha lipoic acid (ALA), a natural organosulfur compound, has the capacity to modulate immune cell behavior.
View Article and Find Full Text PDFBiochem Pharmacol
September 2025
Department of Biosciences, JIS University, 81, Nilgunj Road, Agarpara, Kolkata, West Bengal 700109, India. Electronic address:
The malignant manifestation of breast cancer is driven by complex molecular alterations that extend beyond genetic mutations to include epigenetic dysregulation. Among these, DNA methylation is a critical and reversible epigenetic modification that significantly influences breast cancer initiation, progression, and therapeutic resistance. This process, mediated by DNA methyltransferases (DNMTs), involves the addition of methyl groups to cytosine residues within CpG dinucleotides, resulting in transcriptional repression of genes.
View Article and Find Full Text PDFBiomed Mater
September 2025
Department of Nanobiotechnology, Faculty of Biological Sciences, , Tarbiat Modares University, Tehran, P.O. Box 14115-154, Iran, Tehran, Tehran Province, 14115-154, Iran (the Islamic Republic of).
It is essential to develop new strategies for wound treatment and skin reconstruction, particularly by scaffolds that replicate the structure and function of native skin. A bilayer scaffold was developed using three-dimensional (3D) bioprinting, based on a uniform chitosan-based formulation for both layers, maintaining material uniformity while offering structural support and promoting cell adhesion. The upper chitosan layer, embedded with NHEK-Neo, is stiffer and mimics the epidermis, while the softer lower layer contains embedded HFFs and HFSCs, mimicking the dermis.
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