BitPhylogeny: a probabilistic framework for reconstructing intra-tumor phylogenies.

BitPhylogeny: a probabilistic framework for reconstructing intra-tumor phylogenies.
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DOI:
10.1186/s13059-015-0592-6
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发表时间:
2015-02-13
期刊:
影响因子:
12.3
通讯作者:
Beerenwinkel N
Beerenwinkel N
中科院分区:
生物学1区
文献类型:
--
作者:
Yuan K;Sakoparnig T;Markowetz F;Beerenwinkel N

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长期以来,癌症一直被认为是一个体细胞进化过程,但肿瘤进展的许多细节仍然难以捉摸。在这里,我们提出了BitPhylogeny,一个概率框架来重建肿瘤内的进化途径。使用完整的贝叶斯方法,我们共同估计样本中克隆的数量和组成,以及连接它们的最可能的树。我们验证了我们的方法在模拟研究的控制设置,并比较它对几个竞争的方法。在两个案例研究中,我们展示了BitPhylogeny如何从结肠癌中的甲基化模式和骨髓增生性肿瘤中的单细胞外显子组重建肿瘤发生。本文的在线版本(doi:10.1186/s13059-015-0592-6)包含补充材料,可供授权用户使用。
Cancer has long been understood as a somatic evolutionary process, but many details of tumor progression remain elusive. Here, we present BitPhylogeny, a probabilistic framework to reconstruct intra-tumor evolutionary pathways. Using a full Bayesian approach, we jointly estimate the number and composition of clones in the sample as well as the most likely tree connecting them. We validate our approach in the controlled setting of a simulation study and compare it against several competing methods. In two case studies, we demonstrate how BitPhylogeny reconstructs tumor phylogenies from methylation patterns in colon cancer and from single-cell exomes in myeloproliferative neoplasm. The online version of this article (doi:10.1186/s13059-015-0592-6) contains supplementary material, which is available to authorized users.
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