The decreasing cost along with rapid progress in next-generation sequencing and related bioinformatics computing resources has facilitated large-scale discovery of SNPs in various model and nonmodel plant species. Large numbers and genome-wide availability of SNPs make them the marker of choice in partially or completely sequenced genomes. Although excellent reviews have been published on next-generation sequencing, its associated bioinformatics challenges, and the applications of SNPs in genetic studies, a comprehensive review connecting these three intertwined research areas is needed. This paper touches upon various aspects of SNP discovery, highlighting key points in availability and selection of appropriate sequencing platforms, bioinformatics pipelines, SNP filtering criteria, and applications of SNPs in genetic analyses. The use of next-generation sequencing methodologies in many non-model crops leading to discovery and implementation of SNPs in various genetic studies is discussed. Development and improvement of bioinformatics software that are open source and freely available have accelerated the SNP discovery while reducing the associated cost. Key considerations for SNP filtering and associated pipelines are discussed in specific topics. A list of commonly used software and their sources is compiled for easy access and reference.
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http://dx.doi.org/10.1155/2012/831460 | DOI Listing |
J Transl Med
January 2025
Tumour Biology and Immunology Laboratory, Research Branch, Sidra Medicine, Doha, Qatar.
Background: FFPE tissue samples are commonly used in biomedical research and are a valuable source for next-generation sequencing in oncology, however, extracting RNA from these samples can be difficult the quantity and quality achieved can impact the downstream analysis. This study compared the effectiveness of seven different commercially available RNA extraction kits specifically designed for use with FFPE samples in terms of the quantity and quality of RNA recovered.
Methods: This study used 9 samples of FFPE tissue from three different types of tissue (Tonsil, Appendix and lymph node of B-cell lymphoma) to evaluate RNA extraction methods.
Curr Microbiol
January 2025
Brewing Technology Industrial College, Hubei University of Arts and Sciences, Xiangyang, Hubei, China.
To investigate the bacterial community structure and physicochemical characteristics of different types of Daqu in the Binzhou region, this study employed traditional pure culture methods, high-throughput sequencing technology, and conventional physicochemical assays for analysis. The research results indicate that Enterococcus faecium and Bacillus licheniformis emerged as the main LAB and Bacillus species in Daqu from Binzhou region, respectively. In addition, high-throughput sequencing revealed significant differences in bacterial community structure between the two types of Daqu (P < 0.
View Article and Find Full Text PDFZhonghua Bing Li Xue Za Zhi
January 2025
Department of Pathology, the Seventh Medical Center of People's Liberation Army of China General Hospital, Beijing100700, China.
To analyze the morphologic changes and the extent of severity in end-stage heart disease; and to explore the correlation with their clinical features. Twelve cases of recipients who underwent pediatric cardiac allograft transplantation were collected from May 2022 to November 2023 at the Seventh Medical Center of People's Liberation Army of China General Hospital. Gross pathologic examinations were performed and morphological changes were observed under a light microscope after HE, Masson's trichrome, and reticulin staining.
View Article and Find Full Text PDFZhonghua Bing Li Xue Za Zhi
January 2025
Department of Pathology, Peking Union Medical College Hospital, Peking Union Medical College,Chinese Academy of Medical Sciences, Beijing100730, China.
To investigate the characteristics of RET gene rearrangement revealed by fluorescence in situ hybridization (FISH) in lung cancer. A total of 616 formalin-fixed paraffin-embedded surgical samples from lung adenocarcinomas with wild-type EGFR gene and no ALK protein expression by immunohistochemistry obtained at Peking Union Medical College Hospital, Beijing, China between December 2019 and April 2022 were included. Thirty-three tumors with RET gene rearrangement determined by imbalanced-based reverse-transcription droplet digital PCR (RT-ddPCR) were analyzed using break-apart FISH.
View Article and Find Full Text PDFZhonghua Bing Li Xue Za Zhi
January 2025
Department of Pathology, School of Basic Medical Sciences, Peking University Third Hospital, Peking University Health Science Center, Beijing100191, China.
To understand the clinicopathological and molecular genetic characteristics of aggressive renal mucinous tubular and spindle cell carcinoma (MTSCC). The clinical features, histology, immunophenotype, molecular characteristics and prognosis of 4 cases of metastatic/recurrent renal MTSCC that were submitted to the Peking University Third Hospital (2 cases), Institute of Urology, Peking University (one case) and Zhejiang Provincial People's Hospital (one case) from 2015 to 2020 were retrospectively reviewed and analyzed. Among the four patients, two were male and two were female.
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