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一、肿瘤突变特征:碱基置换及插入、缺失突变
单碱基置换(49种特征类型,single-base-substitution,SBS)
双碱基置换(11种特征类型,doublet-base-substitution,DBS)
多碱基置换(4种特征类型,clustered-base-substitution,CBS)
小的插入、缺失突变(17种特征类型,small insertion-and-deletion,small indels)
CNS-GBM SBS ≈ 10 mb;DBS ≈ 0.01 mb;Indels ≈ 0.3 mb
二、单碱基置换、双碱基置换及小的插入、缺失突变概况
单碱基置换(96种类型,49种特征类型,single-base-substitution,SBS)
双碱基置换(78种类型,11种特征类型,doublet-base-substitution,DBS)
多碱基置换(4种特征类型,clustered-base-substitution,CBS)
小的插入、缺失突变(83种类型,17种特征类型,small insertion-and-deletion,small indels)
SBS 有六种突变,考虑到突变所占比重不同,理论上有 C 6 1 C_{6}^{1} C