免疫治疗可能相关的正向预测因子及负向预测因子; (2)基于靶向测序panel的TMB检测应以WES检测为金标准, 纳入影响蛋白质编码的体细胞突变, 应保证检出突变频率≥ 5%的体细胞突变, 以保证TMB检测值的准确性和稳定性。
With the need for comprehensive high-throughput analysis, we have designed a comprehensive next-generation sequencing (NGS) assay to detect somatic mutations, translocations, and copy number changes and have evaluated its clinical utility in patients with ALL. The panel reliably detected single ...
Methods:We developed a tool for theDetection ofExonCopyNumber variants (DECoN), which is optimised for analysis of exon-targeted NGS panels in the clinical setting. We evaluated DECoN performance using 96 samples with independently validated exon CNV data. We performed simulations to evaluate DECoN ...
We also use optional cookies for advertising, personalisation of content, usage analysis, and social media. By accepting optional cookies, you consent to the processing of your personal data - including transfers to third parties. Some third parties are outside of the European Economic Area, with...
This study aimed to assess hematological diseases next-generation sequencing (NGS) panel enhances the diagnosis and classification of myeloid neoplasms (MN) using the 5th edition of the WHO Classification of Hematolymphoid Tumors (WHO-HAEM5) and the International Consensus Classification (ICC) of Myelo...
copy number based on varying hybridization intensities. While array-based approaches offer efficient, sensitive, and large-scale copy number analysis for extensive examination and profiling of CNVs, they have several challenges, including hybridization noise, low resolution, limited genome coverage, and ...
Poster: The first low input, three-day NGS Ion AmpliSeq Methylation Panel and protocol Technical Bulletin: Bisulfite methylation library production and analysis using the Ion AmpliSeq Library Kit Plus Technical Bulleting: Bisulfite methylation library production and analysis using ...
ForgermlineCNVs:https://www.biorxiv.org/content/10.1101/2022.06.10.495642v1(calling of copy-number variants in germline). ForcommonCNPs:https://pubmed.ncbi.nlm.nih.gov/35597955/(this is an advanced analysis and the tool is not working strictly out of the box, better contact me first) ...
The convenient predesigned Ion AmpliSeq ready-to-use panels allow researchers to focus on data generation and analysis, not on the labor-intensive primer design and target selection steps. Learn more Exome panel The Ion AmpliSeq Exome RDY S5 Kit allows fo...
Next-generation sequencing (NGS) offers a promising approach for differentiating multiple primary lung cancers (MPLC) from intrapulmonary metastasis (IPM), though panel selection and clonal interpretation remain challenging. Whole-exome sequencing (WES)