| 1 | Target genes discovery through copy number alteration analysis in human hepatocellular carcinoma显示文摘High-throughput short-read sequencing of exomes and whole cancer genomes in multiple human hepatocellular carcinoma(HCC)cohorts confirmed previously identified frequently mutated somatic genes,such as TP53,CTNNB1 and AXIN1,and identified several novel genes with moderate mutation frequencies,including ARID1A,ARID2,MLL,MLL2,MLL3,MLL4,IRF2,ATM,CDKN2A,FGF19,PIK3CA,RPS6KA3,JAK1,KEAP1,NFE2L2,C16orf62,LEPR,RAC2,and IL6ST.Functional classification of these mutated genes suggested that alterations in pathways participating in chromatin remodeling,Wnt/β-catenin signaling,JAK/STAT signaling,and oxidative stress play critical roles in HCC tumorigenesis.Nevertheless,because there are few druggable genes used in HCC therapy,the identification of new therapeutic targets through integrated genomic approaches remains an important task.Because a large amount of HCC genomic data genotyped by high density single nucleotide polymorphism arrays is deposited in the public domain,copy number alteration(CNA)analyses of these arrays is a cost-effective way to reveal target genes through profiling of recurrent and overlapping amplicons,homozygous deletions and potentially unbalanced chromosomal translocations accumulated during HCC progression.Moreover,integration of CNAs with other high-throughput genomic data,such as aberrantly coding transcriptomes and non-coding gene expression in human HCC tissues and rodent HCC models,provides lines of evidence that can be used to facilitate the identification of novel HCC target genes with the potential of improving the survival of HCC patients. | De-Leung Gu Yen-Hsieh Chen Jou-Ho Shih Chi-Hung Lin Yuh-Shan Jou Chian-Feng Chen | 2013 | World Journal of Gastroenterology2013，19，47： | 6 |
| 2 | HuLDO:人类肝脏疾病本体的构建及应用显示文摘目的中国是多种常见肝病的高发国家,肝脏疾病的研究对提高防治水平,保障人民健康有着重要的意义。为了全面收集、整理、共享和分析分散于现有数据库和文献资料中的肝脏生理病理学知识,该研究构建了人类肝脏疾病本体HuL DO并展开多方面应用。方法 HuL DO是参考疾病相关的多个权威术语集和肝脏病学专著而构建的,依据该本体中的疾病名称列表,从现有数据库中收集各种肝病的相关数据,以本体结构为数据组织框架构建肝病知识库,以本体为字典挖掘肝病与基因的关系。结果 HuL DO是目前最全面的肝病概念分类系统,以该本体为基础建立了一整套肝病知识的收集、挖掘和展示的工具和策略。结论 HuL DO是全面收集、高效分享和灵活分析各类肝病数据和知识的重要工具。肝病本体的下载地址是ftp://liveratlas.hupo.org.cn/5.liver%20Disease%20Ontology/。 | 杨春媛 李满生 朱云平 | 2015 | 军事医学2015，39，2： | 2 |
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