中新网深圳2月26日电 (记者 郑小红)一种基因融合检测算法SOAPfuse，在深圳华大基因开发成功。该算法提高了基因融合的检测效率，推动疾病尤其是肿瘤的研究，对临床分子分型和肿瘤新药的开发具有重要意义。

Beijing, shenzhen, feb 26 (Reuters) (The reporter Zheng Xiaogong)SOAPfuse a gene fusion detection algorithm,Genomics in shenzhen development success.The algorithm improves the detection efficiency of gene fusion,Promote disease especially in tumor research,Of clinical molecular classification of new drugs and tumor development is of great significance.

　　深圳华大基因26日向此间媒体介绍，该算法具有准确率高、敏感性强、精度高、资源消耗少等优点，采用局部穷举算法和一系列精细的过滤策略，对基因融合进行快速、精确的检测。

Shenzhen huada gene 26 to this media is introduced,The algorithm has high accuracy/Sensitivity is strong/High precision/Less resource consumption, etc,Using local exhaustive algorithm and a series of fine filtering strategies,For rapid gene fusion/Accurate detection of.

　　基因融合是指染色体上两个异位的基因嵌合在一起，形成一个嵌合基因的现象。这种现象一般是由于染色体发生易位、缺失或者倒置造成的，它们在癌症的发生上扮演着重要的角色，并且可以作为诊断和治疗癌症的靶标。基因融合现象最早在血液系统恶性肿瘤中被发现，其中以慢性粒细胞白血病中BCR-ABL基因融合最为经典。随着对基因融合的深入研究，科研人员发现，除血液系统肿瘤外，在实体瘤中也存在着基因融合现象。

Gene fusion refers to two ectopic gene on chromosome chimeric together,Form a chimeric gene.This phenomenon generally occurs is due to chromosome translocation/Due to missing or inverted,They play an important role in the occurrence of cancer,And can be used as a diagnostic and targets for the treatment of cancer.Gene fusion phenomenon in blood system of malignant tumor was found at the earliest,With chronic myelogenous leukemia in the BCR - ABL gene fusion is the most classic.With the in-depth study on gene fusion,Scientists have found,In addition to the blood system tumor,Gene fusion phenomenon also exists in solid tumor.

　　传统基因融合研究方法具有通量低、操作复杂、不便于大规模样品筛查的缺点。新算法—SOAPfuse首先通过比对到基因组和转录本中双末端(pairend)关系的序列寻找候选的基因融合，然后采用局部穷举算法和一系列精细的过滤策略，在尽量保留真实融合的情况下过滤掉其中假阳性的基因融合。

Traditional gene fusion research method has low flux/Complex operation/Is not convenient to large-scale screening the disadvantages of the sample.New algorithm - SOAPfuse first by comparing the genomes and transcription in the terminal(pairend)Looking for candidate gene fusion relationship of sequence,Then using local exhaustive algorithm and a series of fine filtering strategy,In as far as possible keep real fusion filtering under the condition of the false positive gene fusion.

　　模拟数据和真实验证数据的综合测评表明，SOAPfuse与其他方法相比具有更高的灵敏度和特异性，并且可以大大减少资源消耗。此外，该算法还具有融合断点预测和可视化功能。(完)

Simulated data and real data of comprehensive evaluation indicated that,SOAPfuse compared with other method has higher sensitivity and specificity,And it can greatly reduce resource consumption.In addition,The algorithm also has the function of breakpoint prediction and visualization.(After the)