Polymerase Chain Reaction (PCR) based techniques for DNA methylation techniques includes the MS-HRM technique. Methylation Sensitive High-Resolution Melting (MS-HRM) primer-design requires a set of necessary recommendations for such DNA methylation assessment. However, there were not any available software that allows an automatic design of this kind primers. We present Softepigen, the first complete MS-HRM primer design software. Softepigen allows to search for primers in a genomic region following Wojdacz's recommendations and targets primer binding regions with high linguistic complexity sequences that increase the specificity of the converted sequence of the human genome. We performed in-silico PCR analysis through BiSearch ePCR tool to validate the specificity of the of the primers designed using Softepigen. Softepigen for MS-HRM performance in our genomic regions of interest show satisfactory specificity measurements, and we implemented it for freely available use in the web-based interface at www.soft-epigen.com.
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http://dx.doi.org/10.1109/TCBB.2018.2867600 | DOI Listing |
Genes (Basel)
November 2024
Laboratório de Citogenética Clínica, Centro de Genética Médica, Instituto Nacional da Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira-Fundação Oswaldo Cruz, Rio de Janeiro 22250-020, Brazil.
Background: Balanced chromosomal translocations occur in approximately 0.16 to 0.20% of live births.
View Article and Find Full Text PDFGene
March 2025
State University of Londrina (UEL), Department of General Biology, Center of Biological Sciences, Londrina, PR 86057-970, Brazil. Electronic address:
Background: Alteration in DNA repair and metabolism genes can affect the maintenance of DNA integrity or xenobiotics metabolism, potentially leading to DNA damage accumulation. The present study investigated the association between polymorphisms in Glutathione S-Transferase Pi 1 (GSTP1, rs1695) and O-6-Methylguanine-DNA Methyltransferase (MGMT, rs2308321) genes with urothelial bladder cancer (UBC) susceptibility and prognosis. Furthermore, the methylation patterns of the promoter region of these genes were analyzed in tumor and non-tumor bladder tissues, besides MGMT gene expression in tumor samples.
View Article and Find Full Text PDFJ Diabetes Metab Disord
December 2024
Urology Research Center, Tehran University of Medical Sciences, Sina Hospital, Hassan Abad Sq., Imam Khomeini Ave, Tehran, Iran.
Objectives: Circulating tumor DNAs (ctDNAs) are fragments of malignant tissue DNA that can simply signify the real time genetic change and epigenetic modification of a solid tumor tissue. Pheochromocytomas (PCCs) and Paragangliomas (PGLs) are malinancy of adrenal gland tissue that have the possible diagnosis by ctDNAs. In this study the methylation quanifcation of three target genes , , and in the ctDNA of PCCs/PGLs patients were measured as a diagnostic biomarker.
View Article and Find Full Text PDFBrain Sci
October 2024
Center for Work-Related Stress and Occupational Mental Disorders, Azienda Ospedaliero-Universitaria Pisana, 56124 Pisa, Italy.
Clin Epigenetics
November 2024
Faculty of Medicine, Institute of Pathology, University of Ljubljana, Ljubljana, Slovenia.
Background: DNA methylation biomarkers are one of the most promising tools for the diagnosis and differentiation of adenocarcinomas of the liver, which are among the most common malignancies worldwide. Their differentiation is important because of the different prognoses and treatment options. This study aimed to validate previously identified DNA methylation biomarkers that successfully differentiate between liver adenocarcinomas, including the two most common primary liver cancers, hepatocellular carcinoma (HCC) and cholangiocarcinoma (CCA), as well as two common metastatic liver cancers, colorectal liver metastases (CRLM) and pancreatic ductal adenocarcinoma liver metastases (PCLM), and translate them to the methylation-sensitive high-resolution melting (MS-HRM) and digital PCR (dPCR) platforms.
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