Evaluation of MIP, WES, and TruSeq capturing-sequencing technologies for FANCD2 mutations. (A) FANCD2 mutations identified by MIP and WES capture methods. The genotype coverage generated by the MIP and the WES methods is aligned with the FANCD2 gene track from the UCSC browser (hg18) for patients FA19 (upper panel) and FA18 (lower panel). The regions of high quality genotype coverage are indicated by solid rectangles; gaps indicate no coverage. The regions harboring the mutations are expanded below, and the circle with red shading points to the base with a mutation in the respective patient DNA. Sanger sequencing traces showing the mutations are shown below. MIP capture sequence includes the c.1279G>T location, but does not include the other mutation (c.491+G>A) for the FA19 DNA or that for the mutation in FA18. Coverage generated using the WES method, however, is nearly complete, albeit only exonic (plus immediate flanking) regions. (B) FANCD2 mutations in FA21 by TruSeq capture sequencing. The UCSC browser track for the FANCD2 gene is aligned with the genotype coverage by the TruSeq method for FA21. Sequences are recovered for nearly the entire gene. The regions harboring the mutations are expanded below (mutant base marked with red shading), along with the Sanger sequencing traces that indicate the mutations.