Abstract：
Cancer is one of the wide-ranging diseases which have a high mortality rate impacting globally. This scenario can be switched by early detection and correct precision treatment, a major concern for cancer patients. Clinicians can figure out the best-suited treatments for cancer patients by analyzing the patient\'s genome, which will treat the patient well and minimize the chances of side effects as well. Therefore, we have developed a fast, robust, and efficient solution as our precision oncology framework based on the whole genome sequencing of the individual\'s DNA. This platform can perform the entire genomic analysis, starting from the quality assessment of the input file to the variant annotation and functional prediction, followed by a certain level of interpretation. This analysis helps in the molecular profiling of the tumors for the identification of the targetable alterations. It takes in FASTQ or BAM file as an input and provides us with two output reports: a primary report, which consists of the patients\' details, a summary of the analysis, and a secondary report, which is an elaborated report comprised of numerous results obtained from the analysis such as base changes, codon changes, amino acid changes, TMB analysis, MSI analysis, the variant frequency with its effects and impacts, affected biomarkers, etc. This framework can be effectively utilized for cancer treatment guidance, identification and validation of novel biomarkers, oncology research & development, genomic analysis, and gene manipulation.
摘要：
癌症是影响全球的高死亡率的广泛疾病之一。这种情况可以通过早期检测和正确的精确治疗来切换，癌症患者的主要关注点。临床医生可以通过分析患者的基因组找出最适合癌症患者的治疗方法，这将很好地治疗病人，并尽量减少副作用的机会。因此,我们开发了一种快速的，健壮,和有效的解决方案，作为我们的精确肿瘤学框架，基于个体DNA的全基因组测序。这个平台可以进行整个基因组分析，从输入文件的质量评估到变体注释和功能预测，其次是一定程度的解释。该分析有助于肿瘤的分子谱分析以鉴定可靶向的改变。它接受FASTQ或BAM文件作为输入，并为我们提供两个输出报告：主报告，其中包括病人的细节，分析总结，和一份二级报告，这是一份详尽的报告，包括从分析中获得的许多结果，如基数变化，密码子改变,氨基酸变化，TMB分析，MSI分析，变异频率及其影响，受影响的生物标志物，等。该框架可以有效地用于癌症治疗指导，新型生物标志物的鉴定和验证，肿瘤学研究与发展，基因组分析,和基因操纵。
