Microsatellites have been utilized for decades for genotyping individuals in various types of research. Automated scoring of microsatellite loci has allowed for rapid interpretation of large datasets. Although the use of software produces an automated process to score or genotype samples, several sources of error have to be taken into account to produce accurate genotypes. A variety of problems (from extracting DNA to entering a genotype into a database) which can arise throughout this process might result in erroneous genotype assignment to one or more samples, potentially confounding the conclusions of your study. Correctly assigning a genotype to a sample requires knowledge of the chemistry you use to generate the data as well as the software you use to analyze these results. In this chapter we describe the critical and more common points that researchers experience when scoring microsatellite loci. More importantly we provide insight from an experienced perspective for these challenges.
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http://dx.doi.org/10.1007/978-1-62703-389-3_21 | DOI Listing |
Cancer Sci
January 2025
Oncology Innovation Center, Fujita Health University, Toyoake, Aichi, Japan.
Colorectal cancer (CRC) is well characterized in terms of genetic mutations and the mechanisms by which they contribute to carcinogenesis. Mutations in APC, TP53, and KRAS are common in CRC, indicating key roles for these genes in tumor development and progression. However, for certain tumors with low frequencies of these mutations that are defined by tumor location and molecular phenotypes, a carcinogenic mechanism dependent on BRAF mutations has been proposed.
View Article and Find Full Text PDF<b>Background and Objective:</b> Black soybeans [<i>Glycine max</i> (L.) Merr] are among the important crops, but the cultivated resources are normally low-yielding, susceptible to diseases and low profit. Therefore, it is necessary to evaluate the genetic diversity of black soybean germplasms for breeding programs.
View Article and Find Full Text PDFJ Gastrointest Oncol
December 2024
Department of Traditional Chinese Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Background: Colorectal cancer (CRC) is among the most prevalent malignancies globally, with a rising incidence observed in younger demographics. Despite surgical resection remaining the cornerstone of treatment, metastatic CRC poses significant therapeutic challenges. Immunotherapy, a mode of treatment that leverages the patient's immune system, presents a promising frontier in CRC management, particularly for late-stage cases with limited treatment options.
View Article and Find Full Text PDFJ Neurol
January 2025
LUMC Department of Neurology, Albinusdreef 2, 2333 ZA, Leiden, The Netherlands.
Background And Objectives: The total functioning capacity (TFC) assessment has been integral to Huntington's disease (HD) research and clinical trials, measuring disease stage and progression. This study investigates the natural progression of function in HD, focusing on changes in TFC scores related to age and CAG-repeat length, and evaluates TFC's strengths and weaknesses in longitudinal studies.
Methods: Using Enroll-HD platform's clinical dataset version 5, including Registry-3, we analysed data from 21,079 participants, with 16,083 having an expanded CAG repeat.
Endocr Metab Immune Disord Drug Targets
January 2025
Department of Laboratory Medicine, Taizhou First People's Hospital, Huangyan Hospital of Wenzhou Medical University, Taizhou, Zhejiang, China.
Aim: The aim of this study is to examine the role of the microrchidia (MORC) family, a group of chromatin remodeling proteins, as the therapeutic and prognostic markers for colorectal cancer (CRC).
Background: MORC protein family genes are a highly conserved nucleoprotein superfamily whose members share a common domain but have distinct biological functions. Previous studies have analyzed the roles of MORCs as epigenetic regulators and chromatin remodulators; however, the involvement of MORCs in the development and pathogenesis of CRC was less examined.
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