Butkiewicz Mariusz, Bush William S
Institute for Computational Biology, Case Western Reserve University, Cleveland, Ohio.
Curr Protoc Hum Genet. 2016 Jan 1;88:6.15.1-6.15.17. doi: 10.1002/0471142905.hg0615s88.
This unit describes the concepts and practical techniques for annotating genomic variants in the human genome to estimate their functional significance. With the rapid increase of available whole exome and whole genome sequencing information for human studies, annotation techniques have become progressively more important for highlighting and prioritizing nucleotide variants and their potential impact on genes and other genetic constructs. Here, we present an overview of different types of variant annotation approaches and elaborate on their foundations, assumptions, and the downstream consequences of their use. Computational approaches and tools to assign annotations and to identify variants are reviewed. Further, the general philosophy of assigning potential function to a genetic change within the biological context of a disease is discussed.
本单元描述了注释人类基因组中的基因组变异以评估其功能意义的概念和实用技术。随着用于人类研究的全外显子组和全基因组测序信息迅速增加，注释技术对于突出核苷酸变异及其对基因和其他遗传结构的潜在影响并对其进行优先级排序变得越来越重要。在此，我们概述了不同类型的变异注释方法，并详细阐述了它们的基础、假设及其使用的下游后果。还综述了用于分配注释和识别变异的计算方法和工具。此外，还讨论了在疾病生物学背景下为基因变化赋予潜在功能的一般理念。
