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Double-strand breaks (DSBs) in DNA are naturally occurring destructive events in all organisms that may lead to genome instability. Cells employ various repair methods known as non-homologous end joining (NHEJ), microhomology mediated end joining (MMEJ), and homology-directed recombination (HDR). These repair processes may lead to DNA sequence variations (e.g., nucleotide insertions, deletions, and substitutions) at the location of the break. Studying DNA DSB repair processes often involves the use of high throughput sequencing assays to precisely quantify the sequence variations near the break with software tools. Often methods of assessing and visualizing these data have not taken into account the full complexity of the sequencing data, such as the frequency, type, and position of the sequence variations in a single comprehensive representation. Here we present a method that allows visualization of the overall variation pattern as well as comparison of these patterns among experimental setups.
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Am J Reprod Immunol
September 2025
Department of Obstetrics and Gynecology, Second XiangYa Hospital of Central South University, Changsha, Hunan, China.
Problem: Preeclampsia (PE) is a leading cause of perinatal maternal and fetal mortality. Clinical and pathological studies suggest that placental and decidual cell dysfunction may contribute to this condition. However, the pathogenesis of PE remains poorly understood.
View Article and Find Full Text PDFStress Biol
September 2025
Shaanxi Key Laboratory of Molecular Biology for Agriculture, College of Animal Science and Technology, Northwest A&F University, Yangling, Shaanxi, China.
Understanding the genetic mechanism of cold adaptation in cashmere goats and dairy goats is very important to improve their production performance. The purpose of this study was to comprehensively analyze the genetic basis of goat adaptation to cold environments, clarify the impact of environmental factors on genome diversity, and lay the foundation for breeding goat breeds to adapt to climate change. A total of 240 dairy goats were subjected to genome resequencing, and the whole genome sequencing data of 57 individuals from 6 published breeds were incorporated.
View Article and Find Full Text PDFNucleic Acids Res
September 2025
Key Laboratory of Clinical Laboratory Diagnostics (Chinese Ministry of Education), College of Laboratory Medicine, Chongqing Medical University, Chongqing 400016, P. R. China.
Local pH variations play a pivotal role in numerous critical biological processes. However, achieving the tunability and selectivity of pH detection remains a challenge. Here, we present a DNA-based strategy that enables programmable and selective pH responses, which is termed shadow-strand hybridization-actuated displacement engineering (SHADE).
View Article and Find Full Text PDFInvest Ophthalmol Vis Sci
September 2025
The University of Leicester Ulverscroft Eye Unit, School of Psychology and Vision Sciences, University of Leicester, Leicester, United Kingdom.
Purpose: To define the genetic architecture of foveal morphology and explore its relevance to foveal hypoplasia (FH), a hallmark of developmental macular disorders.
Methods: We applied deep-learning algorithms to quantify foveal pit depth from central optical coherence tomography (OCT) B-scans in 61,269 UK Biobank participants. A genome-wide association study (GWAS) was conducted using REGENIE, adjusting for age, sex, height, and ancestry.
J Anim Sci
September 2025
USDA, ARS, U.S. Meat Animal Research Center, Clay Center, NE, 68933 USA.
Low-coverage sequencing refers to sequencing DNA of individuals to a low depth of coverage (e.g., 0.
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