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METHODS FOR DETECTING MUTATION LOAD FROM A TUMOR SAMPLE
A targeted panel with low sample input requirements from a tumor only sample may be processed to estimate mutation load in a tumor sample. The method may include: detecting variants in nucleic acid sequence reads corresponding to targeted locations in the tumor sample genome; annotating detected variants with an annotation information from a population database; filtering the detected variants, wherein the filtering retains the somatic variants and removes germline variants; calculating an initial TMB; and applying a calibration to the initial TMB level to produce a final TMB level for the mutation load of the tumor sample genome. The filtering may also include retaining nonsynonymous SNVs and indels for the analysis.
可以处理一种对仅肿瘤样品具有低样品输入要求的靶向组以估计肿瘤样品中的突变负荷。所述方法可包括：检测对应于肿瘤样品基因组中靶向位置的核酸序列读段中的变体；用来自群体数据库的注释信息注释检测到的变体；过滤所述检测到的变体，其中所述过滤保留体细胞变体并且去除生殖系变体；计算初始TMB；以及将校准应用于所述初始TMB水平，以产生所述肿瘤样品基因组的所述突变负荷的最终TMB水平。所述过滤还可包括保留用于分析的非同义SNV和插入和/或缺失。
METHODS FOR DETECTING MUTATION LOAD FROM A TUMOR SAMPLE
A targeted panel with low sample input requirements from a tumor only sample may be processed to estimate mutation load in a tumor sample. The method may include: detecting variants in nucleic acid sequence reads corresponding to targeted locations in the tumor sample genome; annotating detected variants with an annotation information from a population database; filtering the detected variants, wherein the filtering retains the somatic variants and removes germline variants; calculating an initial TMB; and applying a calibration to the initial TMB level to produce a final TMB level for the mutation load of the tumor sample genome. The filtering may also include retaining nonsynonymous SNVs and indels for the analysis.
可以处理一种对仅肿瘤样品具有低样品输入要求的靶向组以估计肿瘤样品中的突变负荷。所述方法可包括：检测对应于肿瘤样品基因组中靶向位置的核酸序列读段中的变体；用来自群体数据库的注释信息注释检测到的变体；过滤所述检测到的变体，其中所述过滤保留体细胞变体并且去除生殖系变体；计算初始TMB；以及将校准应用于所述初始TMB水平，以产生所述肿瘤样品基因组的所述突变负荷的最终TMB水平。所述过滤还可包括保留用于分析的非同义SNV和插入和/或缺失。
METHODS FOR DETECTING MUTATION LOAD FROM A TUMOR SAMPLE
从肿瘤样品中检测突变负荷的方法
CHAUDHARY RUCHI (author) / HYLAND FIONA (author)
2021-04-09
Patent
Electronic Resource
Chinese
IPC:
G16B
Method and device for evaluating tumor mutation load detection performance of NGS kit
| European Patent Office | 2023