FunSeq2: a framework for prioritizing noncoding regulatory variants in cancer.

FunSeq2: a framework for prioritizing noncoding regulatory variants in cancer.
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DOI:
10.1186/s13059-014-0480-5
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发表时间:
2014
期刊:
影响因子:
12.3
通讯作者:
Gerstein M
Gerstein M
中科院分区:
生物学1区
文献类型:
--
作者:
Fu Y;Liu Z;Lou S;Bedford J;Mu XJ;Yip KY;Khurana E;Gerstein M

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从典型肿瘤中的数千个体细胞改变中识别非编码驱动因子是一个困难且未解决的问题。我们报告了一个计算框架,FunSeq 2,注释和优先考虑这些突变。该框架结合了可调整的数据环境,将大规模基因组学和癌症资源与简化的变体优先级管道相结合。该管道具有加权评分系统,结合了:种间和种内保护;转录因子结合的功能丧失和获得事件;增强子-基因联系和网络中心性;以及样本中的每个元素复发。我们进一步强调了推定的驱动程序与特定样本的信息,如差异表达。FunSeq 2可从funseq2.gersteinlab.org获得。本文的在线版本(doi:10.1186/s13059-014-0480-5)包含补充材料,可供授权用户使用。
Identification of noncoding drivers from thousands of somatic alterations in a typical tumor is a difficult and unsolved problem. We report a computational framework, FunSeq2, to annotate and prioritize these mutations. The framework combines an adjustable data context integrating large-scale genomics and cancer resources with a streamlined variant-prioritization pipeline. The pipeline has a weighted scoring system combining: inter- and intra-species conservation; loss- and gain-of-function events for transcription-factor binding; enhancer-gene linkages and network centrality; and per-element recurrence across samples. We further highlight putative drivers with information specific to a particular sample, such as differential expression. FunSeq2 is available from funseq2.gersteinlab.org. The online version of this article (doi:10.1186/s13059-014-0480-5) contains supplementary material, which is available to authorized users.
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