Reference standards for mosaic variant detection. Homo sapiens

This study presents a set of reference standards for mosaic variant detection.The reference standards contain abundant mosaic SNVs and INDELs along with wild type sites and germ line variants. Moreover, the whole reference standard set mimics the cumulative aspect of mosaic variant acquisition in the early developmental stage through a progressive cell line mixing with confirmed genotypes. It can be used for optimizing the current use of mosaic variant detection strategies, as well as developing algorithms for future improvements.

本研究提出了一套用于镶嵌变异（mosaic variant）检测的参考标准品（reference standards）。该参考标准品包含丰富的镶嵌型单核苷酸变异（Single Nucleotide Variants, SNVs）与插入缺失变异（Insertion-Deletions, INDELs），同时涵盖野生型位点与生殖系变异。此外，整套参考标准品通过逐步混合基因型已确认的细胞系，模拟了早期发育阶段镶嵌变异获得的累积过程。该标准集可用于优化当前镶嵌变异检测策略的应用，同时也可用于开发面向未来优化的算法。