Alignment of exome high-throughput sequencing data showing SHROOM3 gene mutation c.179G > T bordered by red vertical lines. The SHROOM3 sequence (RefSeq ID: NG_028077.1) is shown by a single row containing both exonic (green) and intronic (black) areas. The lower left corner of the figure shows the sequencing depth of coverage of exonic sequences (protein-coding) as a green bar. The blue area shows the forward strand sequencing depth while red shows reverse strand sequencing depth. Yellow represents the non-genic and non-targeted sequences of the genome. The mutation call rate is 99% (89 reads with T versus 1 read with C at c.179 of the SHROOM3 gene).
Tariq et al. Genome Biology 2011 12:R91 doi:10.1186/gb-2011-12-9-r91