Fig. 8
NGS and Sanger sequencing results at chromosome 12, location 48237736. The reference genome here shows an A base at locus chr12:48237736. The Ion S5â„¢ XL reported a G/G variant. Sanger sequencing confirmed that there was a deletion at this locus in sample RT482 followed by five G bases. This deletion is not shown in sample LT744 which is also shown in the Sanger sequencing results on the right of this figure