AstraZeneca, Oncology R&D, Arlington, MA, USA.
Methods Mol Biol. 2022;2493:289-314. doi: 10.1007/978-1-0716-2293-3_19.
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.
变异注释通常是指对测序实验中基因组变异信息进行丰富的过程。这些注释通常包括功能预测,例如从 DNA 变异预测氨基酸序列的变化,预测变异是否会引起剪接异常,或预测无义介导的衰变。但是其他注释还包括与基因组数据库结合,添加保守性评分,或与大型人群数据库中的等位基因频率进行比较。最后,所有这些注释都结合在一起,将变异优先排序并过滤为研究或临床检测中高度相关的变异的一个集合。