结直肠癌是世界上第三大最常诊断的癌症类型。目前,有几种诊断和治疗选择来对抗它。然而,这种疾病的检测延迟会危及生命。此外,对癌症外显子组的全面分析揭示了可用于疾病早期预后的潜在变异数据.
■通过全面的计算调查,本研究旨在揭示可能导致结直肠癌的突变。检索到10个结肠直肠癌外显子组。使用FastQC和MultiQC进行质量控制评估,使用Bowtie2与人类参考基因组(hg19)进行间隙比对,并使用GATK管道中的单倍型调用者调用种系变体。使用SIFT和PolyPhen2对变体进行过滤和注释,成功地将突变分类为同义词,非同义词,开始损失和停止增益突变,以及标记它们可能具有破坏性,可能是破坏性和良性的。这种突变谱有助于入围经常出现的突变和相关基因,进行了下游多维表达分析。
■我们的工作涉及优先考虑非同义词,有害的SNP,因为这些多态性导致表型的功能性改变。与发生频率最高的基因相关的最高变异包括LGALS8,CTSB,RAD17,CPNE1,OPRM1,SEMA4D,MUC4,PDE4DIP,ELN和ADRA1A。就各种癌症类型的基因表达谱分析和分析以及差异基因表达而言,对所有这些基因的深入多维下游分析揭示了CTSB和CPNE1在结直肠癌中高度表达和过度调节的基因。
我们的工作提供了对可能导致结直肠癌的各种改变的见解,并暗示了利用湿实验室实验确定的最重要基因的可能性。
UNASSIGNED: Colorectal cancers are the world\'s third most commonly diagnosed type of cancer. Currently, there are several diagnostic and treatment options to combat it. However, a delay in detection of the disease is life-threatening. Additionally, a thorough analysis of the exomes of cancers reveals potential variation data that can be used for early disease prognosis.
UNASSIGNED: By utilizing a comprehensive computational investigation, the present study aimed to reveal mutations that could potentially predispose to colorectal cancer. Ten colorectal cancer exomes were retrieved. Quality control assessments were performed using FastQC and MultiQC, gapped alignment to the human reference genome (hg19) using Bowtie2 and calling the germline variants using Haplotype caller in the GATK pipeline. The variants were filtered and annotated using SIFT and PolyPhen2 successfully categorized the mutations into synonymous, non-synonymous, start loss and stop gain mutations as well as marked them as possibly damaging, probably damaging and benign. This mutational profile helped in shortlisting frequently occurring mutations and associated genes, for which the downstream multi-dimensional expression analyses were carried out.
UNASSIGNED: Our work involved prioritizing the non-synonymous, deleterious SNPs since these polymorphisms bring about a functional alteration to the phenotype. The top variations associated with their genes with the highest frequency of occurrence included LGALS8, CTSB, RAD17, CPNE1, OPRM1, SEMA4D, MUC4, PDE4DIP, ELN and ADRA1A. An in-depth multi-dimensional downstream analysis of all these genes in terms of gene expression profiling and analysis and differential gene expression with regard to various cancer types revealed CTSB and CPNE1 as highly expressed and overregulated genes in colorectal cancer.
UNASSIGNED: Our work provides insights into the various alterations that might possibly lead to colorectal cancer and suggests the possibility of utilizing the most important genes identified for wet-lab experimentation.