Fig. 3
From: Fundoscopy-directed genetic testing to re-evaluate negative whole exome sequencing results
DNA fragment present at Exome capture. The library contains a chimeric fragment (a) and the proband’s fragment containing the Alu insertion (b). With ABI sequencing, genomic fragments containing the Alu-MAK junction were removed. The removal of these fragments led to the paradoxical detection of the mutation. With Illumina sequencing, these Ala-MAK junction fragments were not completely removed. Subsequently, the Ala-MAK junction was excised, creating fragment C, which is similar to the wild-type fragment and thus the mutation was not detected