Diagnosis of Fanconi Anemia: Mutation Analysis by Next-Generation Sequencing
Figure 2
Large detection using next-generation sequence data. Copy number data are projected on an open reading frame (ORF) and on an exon scale. The ORF scale (upper panel) shows log2 ratios (M) for all exons and introns. Red segments indicate an overlap with an exon and black segments indicate no overlap with exons. The exon scale (lower panel) only shows the mean log2 ratio per exon with their 25th and 75th percentile. R plots of large deletion analysis. Deletion of exons 1 to 20 of FANCA (a), exons 1 to 10 of FANCN (b), exons 15 to 23 in FANCA (c), and exon 38 in FANCI (d).
