子宫内膜癌相关细胞癌变早筛检测数据

癌症早筛检测，通过检测15毫升血液中DNA碎片里面是否含有癌特异性突变，实现对细胞癌化信号的早期排查。采用专利分子捕获技术和高通量测序技术检测血液中来自不同组织癌化细胞的DNA小片段，覆盖关键抑癌基因中超1900种特异突变指标，对体内是否存在癌化克隆细胞（癌细胞的前体）、存在多少以及在哪里进行计算，可对正常细胞的癌化进程进行定量监控，能让预警发生在细胞癌变前，及早发现和治疗子宫内膜癌患者，减少因晚期治疗而带来的高昂医疗费用和医疗资源的浪费。使用专利分子捕获技术和高通量测序技术检测血液中来自不同组织癌化细胞的DNA小片段，覆盖关键抑癌基因中超1900种特异突变指标。1、数据质量控制：对原始的FASTQ文件进行质控，检查序列数据的质量，移除污染序列，确保数据的准确性；2、去接头：去除接头序列和低质量的碱基，确保分析过程中只使用高质量的序列。3、序列比对：使用比对工具将质控后的序列映射比对。4、突变位点检测：选择特定的变异检测工具，检测比对后序列的变异性，得到显著突变位点；5、位点功能注释：结合选择的BED文件对显著突变位点进行功能注释，判断在基因组中的位置（如是否位于功能重要区域或已知的致病性位点），得到“突变区域”字段。6、癌症相关性分析：利用注释信息和临床数据库，分析显著突变位点与不同类型癌症的关联性，得到“癌种编号”，“相关级别”字段若为特异性相关记为“1”，普通相关记为“2”。7、基于蛋白质原始状态和突变后的物理化学性质构建OBCD癌症早筛模型，通过分析突变前后蛋白质性质发生的变化，判断该显著突变位点发生突变对人体的影响，结合蛋白质在细胞信号转导过程中是否发生磷酸化以及对应的净电荷，为癌症的早筛提供参考依据。

Cancer early screening detection realizes early screening of cell carcinogenesis signals by detecting whether cancer-specific mutations exist in DNA fragments in 15 mL of blood. It adopts patented molecular capture technology and high-throughput sequencing technology to detect small DNA fragments from cancerous cells of different tissues in the blood, covering more than 1900 specific mutation indicators in key tumor suppressor genes. It calculates whether there are carcinogenic clone cells (precursors of cancer cells) in the body, their quantity and location, and can quantitatively monitor the carcinogenesis process of normal cells, enabling early warning before cell carcinogenesis, early detection and treatment of endometrial cancer patients, and reducing high medical costs and waste of medical resources caused by late-stage treatment.

It adopts patented molecular capture technology and high-throughput sequencing technology to detect small DNA fragments from cancerous cells of different tissues in the blood, covering more than 1900 specific mutation indicators in key tumor suppressor genes.

1. Data Quality Control: Conduct quality control on the original FASTQ files, check the quality of sequence data, remove contaminated sequences to ensure data accuracy;
2. Adapter Trimming: Remove adapter sequences and low-quality bases to ensure only high-quality sequences are used in the analysis process;
3. Sequence Alignment: Use alignment tools to map and align the quality-controlled sequences;
4. Mutation Site Detection: Select specific variant detection tools to detect the variability of the aligned sequences and obtain significant mutation sites;
5. Site Functional Annotation: Perform functional annotation on the significant mutation sites in combination with the selected BED file, determine their positions in the genome (such as whether they are located in functionally important regions or known pathogenic sites), and obtain the "mutation region" field;
6. Cancer Correlation Analysis: Use annotation information and clinical databases to analyze the correlation between significant mutation sites and different types of cancers, and obtain the "cancer type number" and "relevance level" fields. If the correlation is specific, mark it as "1"; if it is general correlation, mark it as "2";
7. Construction of OBCD cancer early screening model based on the original state of proteins and the physico-chemical properties after mutation: By analyzing the changes in protein properties before and after mutation, judge the impact of the mutation at this significant mutation site on the human body. Combined with whether the protein is phosphorylated during cell signal transduction and its corresponding net charge, it provides a reference basis for cancer early screening.

搜集汇总

数据集介绍

特点

该数据集为子宫内膜癌相关细胞癌变早筛检测数据，包含2113条记录，覆盖1900多种特异突变指标，用于通过血液检测早期发现子宫内膜癌。数据每半年更新一次，采用专利分子捕获和高通量测序技术，可定量监控细胞癌变进程。