Ultradeep analysis of tumor heterogeneity in regions of somatic hypermutation.
Ultradeep analysis of tumor heterogeneity in regions of somatic hypermutation.
复制标题
体细胞性超突变区域的肿瘤异质性的超紧致分析。
DOI：
10.1186/s13073-015-0147-1
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发表时间：
2015
期刊：
影响因子：
12.3
通讯作者：
Burack WR
中科院分区：
文献类型：
--
作者：
Spence JM;Spence JP;Abumoussa A;Burack WR
肿瘤异质性在癌症治疗中越来越重要。突变热点是下一代测序确定低变异等位基因频率（VAF）肿瘤亚克隆数量和比例的重要位置。在突变密度高的区域，低VAF检测由于作图效率低而变得复杂。我们的Deep-Drilling with iterative Mapping （DDiMAP）方法保留了变异等位基因模式，以帮助单核苷酸变异检测和生成额外的参考等位基因，通过重新映射增加高突变区域的覆盖范围，以捕获对异质性分析至关重要的数据，并提高灵敏度。DDiMAP输出变异模式与频率，使快速系统发育分析正在进行的突变。本文的在线版本（doi:10.1186/ s130773 -015-0147-1）包含补充材料，授权用户可以使用。
Tumor heterogeneity is of growing importance in the treatment of cancers. Mutational hot spots are prime locations for determining number and proportions of low variant allele frequency (VAF) tumor subclones by next generation sequencing. Low VAF detection is complicated by poor mapping efficiency in regions with high mutation density. Our Deep-Drilling with iterative Mapping (DDiMAP) method retains variant allele patterns to aid in single nucleotide variation detection and generation of additional reference alleles, with remapping increasing coverage of highly mutated regions to capture data critical to heterogeneity analysis and enhancing sensitivity. DDiMAP outputs variant patterns with frequencies, enabling rapid phylogenetic analysis of ongoing mutation. The online version of this article (doi:10.1186/s13073-015-0147-1) contains supplementary material, which is available to authorized users.
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影响因子：
64.8
作者：
Gan X;Stegle O;Behr J;Steffen JG;Drewe P;Hildebrand KL;Lyngsoe R;Schultheiss SJ;Osborne EJ;Sreedharan VT;Kahles A;Bohnert R;Jean G;Derwent P;Kersey P;Belfield EJ;Harberd NP;Kemen E;Toomajian C;Kover PX;Clark RM;Rätsch G;Mott R
通讯作者：
Mott R
影响因子：
64.8
作者：
通讯作者：
--
DOI：
10.1073/pnas.0801523105
发表时间：
2008-09-02
影响因子：
11.1
作者：
Campbell, Peter J.;Pleasance, Erin D.;Stratton, Michael R.
通讯作者：
Stratton, Michael R.
影响因子：
20.3
作者：
Gaidano, G;Pasqualucci, L;Dalla-Favera, R
通讯作者：
Dalla-Favera, R
影响因子：
64.5
作者：
Nik-Zainal S;Van Loo P;Wedge DC;Alexandrov LB;Greenman CD;Lau KW;Raine K;Jones D;Marshall J;Ramakrishna M;Shlien A;Cooke SL;Hinton J;Menzies A;Stebbings LA;Leroy C;Jia M;Rance R;Mudie LJ;Gamble SJ;Stephens PJ;McLaren S;Tarpey PS;Papaemmanuil E;Davies HR;Varela I;McBride DJ;Bignell GR;Leung K;Butler AP;Teague JW;Martin S;Jönsson G;Mariani O;Boyault S;Miron P;Fatima A;Langerød A;Aparicio SA;Tutt A;Sieuwerts AM;Borg Å;Thomas G;Salomon AV;Richardson AL;Børresen-Dale AL;Futreal PA;Stratton MR;Campbell PJ;Breast Cancer Working Group of the International Cancer Genome Consortium
通讯作者：
Breast Cancer Working Group of the International Cancer Genome Consortium