Fig. 1.

The PELE-Seq method of rare variant calling. DNA libraries with a 100 bp insert size are paired-end sequenced using 100 bp reads, generating an overlap region of approximately 100 bp. The overlapping reads are merged into a consensus sequence and mismatching bases are discarded. A mixture of two separately-barcoded P1 adapters (green and purple) is ligated to each sample. The P2 adapter that is common to all DNA molecules is shown in blue. In order to pass PELE-Seq quality filtering, SNPs must be present in both paired-end reads and with both barcodes