Next generation sequencing: Improved resolution for paternal/maternal duos analysis

摘要

In the case of two mismatches observed in alleged parent-offspring pairs, there is doubt as to whether there is an exclusion of the putative parent or the existence of two mutations. Here, we report on four cases with two mismatches in paternal/maternal duos based on capillary electrophoresis (CE) results. The analyzed next generation sequencing (NGS) results were compared with 20 autosomal STRs derived from previous CE-based analysis. In summary, the NGS samples used offered comprehensive information of different types of markers that can improve resolutions for paternal/maternal duos analysis. (C) 2016 Elsevier Ireland Ltd. All rights reserved.