Exome sequencing is a targeted sequencing approach that is restricted to the protein-coding regions of genomes. The exome is estimated to encompass approximately 1% of the genome, yet contains approximately 85% of disease-causing mutations [1]. For genetic research...
Flexible, simple, and affordable solutions for exome sequencing Exome sequencing is a targeted sequencing approach that interrogates only the disease-causing exonic regions of the genome. While whole genome sequencing (WGS) provides complete sequencing of a genome, data analysis constraints and the ...
1. 外显子组测序 外显子组测序(Exome sequencing)是指利用序列捕获技术将全基因组外显子区域DNA捕捉并富集后进行高通量测序的基因组 … magigen.com|基于59个网页 2. 外显子测序 美国华盛顿大学的研究人员首次成功地利用“外显子测序(exome sequencing)”技术,发现了一种一个与孟德尔疾病(单基因疾病… ...
在6%-15%的肿瘤中都发现SPOP的靶基因存在突变,从而证明外显子测序能成为前列腺癌分子检测的一种极具发展潜力的新模式。 [ Christopher EB, Sylvan B, Sylvan CB, et al. Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer. Nature Genetics, 2012, 44: 685–689 ] ...
Maher B. Exome sequencing takes centre stage in cancer profiling. Nature. 2009; 459(7244):146-147.Maher B. Exome-sequencing takes centre stage in cancer profiling. Nature 2009; 459: 146-147.Maher B. Exome sequencing takes centre stage in cancer profiling. Nature. 2009;459:146-147....
Whole-exome sequencing of individuals from an isolated population under extreme conditions implicates rare risk variants of schizophrenia Lei Chen Yang Du Yong Cheng Translational Psychiatry(2024) Mutational signature analyses in multi-child families reveal sources of age-related increases in human germline...
第六步,sanger sequencing验证 第七步,细胞功能学验证 参考文献: Witkiewicz A K , Mcmillan E A , Balaji U ,et al. Whole-exome sequencing of pancreatic cancer defines genetic diversityand therapeutic targets[J]. Nature Communications, 2015, 6:6744. ...
We have explored the somatic exome-wide mutational spectra of bilateral TGCT to provide novel insight into the in utero critical time frame of malignant transformation and TGCT pathogenesis. Exome sequencing was performed in five patients with bilateral TGCT (eight tumors), of these three patients ...
ultrasound abnormalities, exome sequencing provided a definitive genetic diagnosis in five fetuses (Drury et al., 2015). Currently, exome sequencing is used as a research tool and/or as a “second tier” test for phenotypes for which no diagnosis has been made using conventional microarray ...
2019 Nature文献笔记: Exome sequencing of Finnish isolates enhances rare-variant association power 原文链接: https://www.nature.com/articles/s41586-019-1457-z 标题:芬兰隔离群的外显子测序增强了罕见突变相关的检测能力 背景:外显子组测序研究在识别对复杂性状有很大影响的有害等位基因方面通常检测能力不足...