Results of the sequencing experiments.(A) Reads from the mRNA-seq experiment aligned across the deletion and visualised in IGV. Reads are represented by grey bars, with the deletion indicated with a black horizontal line in reads. A single nucleotide polymorphism (c.5580 T > C) is also located 18 bp downstream of the deleted sequence in the NCCD case, and is highlighted in blue. (B) Sanger sequencing to confirm the 8 bp deletion in the case, the sire of the case (obligate heterozygote) and a wild-type individual (sibling). The 8 bp sequence upstream of the deletion is identical to the deleted sequence.
Forman et al. BMC Genetics 2012 13:55 doi:10.1186/1471-2156-13-55