Determination of RET Sequence Variation in an MEN2 Unaffected Cohort Using Multiple-Sample Pooling and Next-Generation Sequencing
Figure 1
Variant identification in the 50-pool control and Caucasian P2 pool. (a) Variant read percentages for variants detected in the 50-pool control below 10% variant reads are shown. The variants detected in the 50-pool data for the current NGS run (-axis) is compared to the same library sequenced previously in a different NGS run (-axis) with trendline and value shown on chart. (b and c) Variant read percentages for the pool data (gray circles) and the variant read percentages for the pool data after the subtractive correction with the single-sample control data (black circles) are shown together in each panel. The “repeat region” is boxed in black line. (b) 50-pool control data. Variant detection read cutoff value of 0.5% is the solid horizontal black line. The horizontal dotted lines mark the singleton and doubleton alleles’ expected variant read percentages of 1% and 2%, respectively. (c) Caucasian pool P2 data. Variant detection read cutoff value of 1% is the solid horizontal black line. The horizontal dotted lines mark the singleton and doubleton alleles’ expected variant read percentages of 1.7% and 3.4%, respectively.
