注释
计算生物学
剪接
序列(生物学)
遗传学
集合(抽象数据类型)
胡说
生物
计算机科学
DNA测序
人口
DNA
基因
医学
环境卫生
程序设计语言
出处
期刊:Methods in molecular biology
日期:2012-02-24
卷期号:: 289-314
被引量:34
标识
DOI:10.1007/978-1-0716-2293-3_19
摘要
Variant annotations, in general, refer to the process of information enrichment of genomic variants from a sequencing experiment. Typically these annotations include functional predictions, such as predicting the amino acid sequence changes from the DNA variant, predicting whether the variant will induce a splice anomaly, or predicting nonsense mediated decay. But other annotations also include combining with genomic databases, adding conservation scores, or comparing to allele frequencies from large population databases. Finally, all these annotations are combined to prioritize and filter variants into a reduced set of highly relevant variants for the study or clinical assay.
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