Biological Interpretation of Complex Genomic Data
Biological Interpretation of Complex Genomic Data
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DOI：
10.1007/978-1-4939-9004-7_5
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发表时间：
2019-01-01
期刊：
影响因子：
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通讯作者：
Fisch, Kathleen M.
中科院分区：
文献类型：
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作者：
Fisch, Kathleen M.
肿瘤基因组谱分析涉及分析许多数据类型以产生肿瘤的分子谱。这些分析中的许多导致基因或变体的优先列表以供进一步研究。对这些列表的解释依赖于通过文献和手动策划的知识库注释和提取生物学意义。本章将介绍其中的几种方法，包括基因注释，变异注释，临床注释，功能富集分析和网络分析。无论是单独分析还是综合分析，这些分析都将有助于从生物学角度理解复杂的基因组数据，从而改善临床决策。
Tumor genomic profiling involves analyzing many data types to produce a molecular profile of a tumor. Many of these analyses result in a prioritized list of genes or variants for further study. Interpretation of these lists relies upon annotating and extracting biological meaning through literature and manually curated knowledge bases. This chapter will describe several of these approaches including gene annotation, variant annotation, clinical annotation, functional enrichment analyses, and network analyses. Taken together or individually, these analyses will result in a biological understanding of complex genomic data to improve clinical decision making.