Reference standards for mosaic variant detection

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.