Hi-Plex targeted sequencing is effective using DNA derived from archival dried blood spots.
作者： T. Nguyen-Dumont , , M. Mahmoodi , F. Hammet , T. Tran
关键词:
摘要: Many genetic epidemiology resources have collected dried blood spots (predominantly as Guthrie Cards) an economical and efficient means of archiving sources DNA, conferring great value to screening methods that are compatible with this medium. We applied Hi-Plex screen the breast cancer predisposition gene PALB2 in 93 Card-derived DNA specimens previously characterized for variants via derived from lymphoblastoid cell lines, whole blood, buffy coat. Of archival DNAs, 92 (99%) were processed successfully sequenced using approximately half a MiSeq run. From these all 59 known detected no false-positive variant calls yielded. Fully 98.13% amplicons (5417/5520) represented within 15-fold median coverage (2786 reads), 99.98% (5519/5520) at depth 10 read-pairs or greater. With Hi-Plex, we show first time High-Plex amplicon-based massively parallel sequencing (MPS) system can be effectively prepared spot and, such, dramatically increase scopes both method resource.
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