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癌症基因组解读器注释肿瘤改变的生物学和临床相关性。

Cancer Genome Interpreter annotates the biological and clinical relevance of tumor alterations.

机构信息

Research Program on Biomedical Informatics (GRIB), IMIM Hospital del Mar Medical, Research Institute and Pompeu Fabra University, Barcelona, Spain.

Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain.

出版信息

Genome Med. 2018 Mar 28;10(1):25. doi: 10.1186/s13073-018-0531-8.

Abstract

While tumor genome sequencing has become widely available in clinical and research settings, the interpretation of tumor somatic variants remains an important bottleneck. Here we present the Cancer Genome Interpreter, a versatile platform that automates the interpretation of newly sequenced cancer genomes, annotating the potential of alterations detected in tumors to act as drivers and their possible effect on treatment response. The results are organized in different levels of evidence according to current knowledge, which we envision can support a broad range of oncology use cases. The resource is publicly available at http://www.cancergenomeinterpreter.org .

摘要

虽然肿瘤基因组测序在临床和研究环境中已经广泛应用,但肿瘤体细胞变异的解读仍然是一个重要的瓶颈。在这里,我们介绍了癌症基因组解读器,这是一个通用的平台,可以自动解读新测序的癌症基因组,注释肿瘤中检测到的改变作为驱动因素的潜力及其对治疗反应的可能影响。结果根据现有知识按不同的证据水平进行组织,我们设想这可以支持广泛的肿瘤学用例。该资源可在 http://www.cancergenomeinterpreter.org 上公开获取。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1c74/5875005/3302ab60a667/13073_2018_531_Fig1_HTML.jpg

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