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A new method for determining nucleotide sequences in DNA is described. It is similar to the "plus and minus" method [Sanger, F. & Coulson, A. R. (1975) J. Mol. Biol. 94, 441-448] but makes use of the 2',3'-dideoxy and ar...

Materias / palabras clave: Biology; Indel; Genotyping; DNA sequencing; Exome sequencing; Exome; Genome; 1000 Genomes Project; Computational biology; Human genome; Structural variation; Genomics

Abstract Background Epigenetic mechanisms including DNA methylation are assumed to play crucial roles in the maintenance of genome integrity, regulation of gene expression and development, and their increasing exploitati...

The objective of the present study was to report the molecular cloning and determination of the sequences N-methyl-D-aspartate subunit-1 receptor (NMDAR-1) in the hypothalamus of sheep. The re-amplified DNA template for ...

Abstract Background Preeclampsia (PE), a life-threatening hypertensive disorder of pregnancy, remains poorly characterized at the post-transcriptional regulation level. While alternative splicing (AS) perturbations drive...

Abstract Background The role of extrachromosomal DNA (ecDNA)-related genes in osteosarcoma remains largely unexplored. The aim of this study is to investigate the association between ecDNA-related genes and prognosis and...

Historical samples from museum and private collections can serve as a time machine, allowing us to follow changes in genetic composition through time as well as obtaining genomic data on past biodiversity. Thus, genetic ...

IntroductionOver 90% of pancreatic adenocarcinoma (PDAC) has a KRAS mutation, 98% of which are single-base missense variants occurring at codon 12 (G12), codon 13 (G13), or codon 61 (Q61), with numerous studies demonstra...

Abstract Background Leishmaniasis is a vector-borne disease caused by a protozoan parasite of the genus Leishmania. The infection is transmitted by the bite of infected female sandflies of the genus Phlebotomus in the Ol...

Background and Aim: Cryopreservation of boar semen is widely used for genetic conservation and artificial insemination; however, it induces oxidative stress and molecular alterations that compromise sperm function. Epige...

Abstract Effective management decisions rely on accurate insights into species’ population structure, with high-quality genetic material being essential. Stranded cetaceans are an important source of samples, but meeti...

Limited studies focused on acute effects of PM2.5 components and sources exposure on blood pressure and the potential mediating role of DNA methylation. We conducted a repeated-measurement study design with 4 visits invo...

BackgroundThe integrated stress response (ISR) can cause high-grade serous ovarian cancer (HGSOC) cells to arrest in G1 phase, significantly suppressing their hyperproliferation. Nevertheless, the specific molecular mech...

DNA methylation is an essential epigenetic modification. However, the dynamics of DNA methylation during cabbage bolting remain poorly understood. To investigate changes in DNA methylation during cabbage bolting, we perf...

Background22q11.2 deletion syndrome (22q11.2DS, also known as DiGeorge) affects 1/2,150 individuals. The deletion results in variable clinical phenotypes: thymic hypoplasia or aplasia, hypoparathyroidism, cardiac defects...

Abstract The natural occurrence of 2,6-diaminopurine (Z) as a substitute for adenine (A) in certain bacteriophage genomes has profound evolutionary implications and promising biotechnological potential. Progress in this ...

Nanopore sensors are expected to be one of the most promising next generation sequencing technologies, with label-free, amplification-free and high-throughput fea‐ tures, as well as rapid detections and low cost. Solid...

Abstract Many codecs with different error-correction approaches have been implemented for DNA data storage to date. However, no studies have systematically benchmarked codec implementations to establish their current sta...

Mobile genetic elements (MGEs) such as bacteriophages and plasmids profoundly shape microbial community structure and drive horizontal gene transfer across ecosystems. Wastewater treatment systems, with their high cell d...

Interferonopathies are rare autoinflammatory disorders driven by a constitutive upregulation of the type I interferon (IFN-I) pathway, leading to chronic activation of this cytokine. Despite advances, direct IFN-I measur...

In Puerto Iguazú City, Argentina, human and canine Visceral Leishmaniasis cases have been recorded since theyear 2010, with Leishmania infantum as the etiological agent and Lutzomyia longipalpis as its main vector. In t...

Although DNA methylation is the best characterized epigenetic mark, the mechanism by which it is targeted to specific regions in the genome remains unclear. Recent studies have revealed that local DNA methylation profile...

Abstract Recent advancements in single-cell DNA methylation (scDNAm) sequencing technologies have enabled the profiling of epigenetic landscapes at unprecedented resolution, offering insights into cellular heterogeneity,...