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In order to identify new markers around the glaucoma locus GLC1B as a tool to refine its critical region at 2p11.2-2q11.2, we searched the critical region sequence obtained from the UCSC database for tetranucleotide (GATA)n and (GTCT)n repeats of at least 10 units in length. Three out of four potential microsatellite loci were found to be polymorphic, heterozygosity ranging from 64.56% to 79.59%. The identified markers are useful not only for GLC1B locus but also for the study of other disease loci at 2p11.2-2q11.2, a region with scarcity of microsatellite markers.
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http://dx.doi.org/10.1590/S1415-47572009005000093 | DOI Listing |
J Cancer Res Clin Oncol
September 2025
Division of Gastroenterology, Department of Medicine, Asahikawa Medical University, Asahikawa, Japan.
Purpose: Next-generation sequencing (NGS) has revolutionized cancer treatment by enabling comprehensive cancer genomic profiling (CGP) to guide genotype-directed therapies. While several prospective trials have demonstrated varying outcomes with CGP in patients with advanced solid tumors, its clinical utility in colorectal cancer (CRC) remains to be evaluated.
Methods: We conducted a prospective observational study of CGP in our hospital between September 2019 and March 2024.
Sci Justice
September 2025
School of Life Sciences, University of KwaZulu-Natal, Private Bag X54001, Westville, Durban 4000, South Africa. Electronic address:
A compound marker integrates two or more genetic markers into a single assay. The application of compound markers enhances the predictive accuracy of genetic testing by leveraging the strengths of different genetic variations while mitigating the limitations of individual markers. Compound markers include SNP-SNPs, SNP-STRs, DIP-SNPs, DIP-STRs, Multi-In/Dels, CpG-SNPs, CpG-STRs/CpG-In/Del, and Methylation-Microhaplotypes.
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September 2025
Department of Chemistry and Forensic Science, Eastern Kentucky University, 521 Lancaster Avenue, Richmond, KY 40475, United States. Electronic address:
Traditionally, when processing DNA samples, a multiple-step procedure is followed; after a sample has been collected, DNA is then extracted and quantified before a profile is generated. During the process, valuable DNA can be lost and/or consumed. When processing reference samples, where DNA is usually in abundance, DNA loss may not be a concern for the analysts.
View Article and Find Full Text PDFSci Justice
September 2025
Departamento de Medicina Legal, Bioética, Medicina do Trabalho e Medicina Física e Reabilitação, Faculdade de Medicina FMUSP, Universidade de São Paulo, São Paulo, SP, Brazil. Electronic address:
Short Tandem Repeats (STRs) are the standard technique used in forensic genetics for individual identification due to their high polymorphism and robustness. Although Capillary Electrophoresis (CE) enables the analysis of many STRs, Next-Generation Sequencing (NGS) offers enhanced resolution and the ability to detect STRs' isoalleles and their flanking regions, enhancing the discrimination power of this analysis. Despite the fact that STR kits for NGS are well standardized for evaluating forensic samples, there is no data on their effectiveness in differentiating monozygotic (MZ) twins, which are indistinguishable by CE.
View Article and Find Full Text PDFAnticancer Drugs
September 2025
Department of Thoracic Surgery, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital & Shenzhen Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College.
Nonsmall cell lung cancer (NSCLC) with SMARCA4 deficiency represents a rare subset of lung tumors characterized by early metastasis, poor response to chemotherapy, and unfavorable prognosis. Established therapy strategies for SMARCA4-deficient NSCLC remain elusive. While immune checkpoint inhibitors have been proposed as a potential solution, their efficacy remains uncertain.
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