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Fig. 2 | BMC Bioinformatics

Fig. 2

From: Polymorphic edge detection (PED): two efficient methods of polymorphism detection from next-generation sequencing data

Fig. 2

Polymorphic edge detection in human genome by bidirectional alignment a An example of bidirectional alignment (2 bp deletion on chromosome 11 in hg38). b Alignment of 144 bp deletion on chromosome 2 in hg38 and the diagram of PCR primers and amplified products for confirmation. c Detection of 35.6 kb deletion and the diagram for confirmation. d Confirmation of 144 bp (position 49,334,346 on chromosome 2) and 35.6 kb (position 52,522,549 on chromosome 2) deletion. W: molecular weight marker (100 bp ladder), F: Father (NA12877), M: Mother (NA12878), S: Son (NA12882). For detection the 35.6 kb deletion, primer pairs which amplify wild-type of father and deletion of mother are used for PCR, and the reaction mixtures are electrophoresed. e Detection of a junction for the 144 bp deletion. f Detection of a junction for the 35.6 kb deletion. g Confirmation of SNP at position 115,921,403 on chromosome 1, A to A/C in father and A to C in mother by Dye-terminator sequence method

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