Whole exome and whole genome sequencing with dried blood spot DNA without whole genome amplification (original) (raw)

“…DNA extraction, library preparation and sequencing were carried out following a previously described protocol. (Bassaganyas, et al, 2018) The reads from the NBSeq exomes were mapped to the human reference genome GRCh37 assembly (Aug 2009 release), using BWA-mem v0.7.10 ( Li and Durbin, 2009). The resulting BAM files were sorted, indexed and marked for PCR duplicate reads by Picard v0.7.10 (http://picard.sourceforge.net).…”