Figure 5
The quantitative nature of NGS provides greater insight into LOH events. For UPC 2719, representative sequence read-out for one SNP (A) and 2 mutations (B-C) are displayed alongside SNP array data (D), showing a UPD over the TET2 locus. (A) An A to G SNP found in TET2 exon 11 is depicted by the dominant black bar and is found at 68% RMA (68% variation from the reference sequence indicated on the left axis), indicative of homozygosity and LOH in a population with mixed clonality. (B-C) Likewise, a C to T mutation in TET2 exon 7 is found at 69% RMA and another in exon 10 at 22% RMA, respectively, again indicative of multiple and distinct disease clones. The sequence coverage (number of reads) across the regions is indicated outside or inside the right axis in panel A or panels B and C, respectively, and traced by the blue lines in all cases. (D) Consistent with the sequence data, SNP6 array data show a region with LOH, indicative of UPD, highlighted by the green bar. The top panel represents a smooth copy number signal plot and a copy number of 2. The bottom panel shows individual genotypes for the SNP probes and a background of AB heterozygote calls consistent with mixed clonality.

The quantitative nature of NGS provides greater insight into LOH events. For UPC 2719, representative sequence read-out for one SNP (A) and 2 mutations (B-C) are displayed alongside SNP array data (D), showing a UPD over the TET2 locus. (A) An A to G SNP found in TET2 exon 11 is depicted by the dominant black bar and is found at 68% RMA (68% variation from the reference sequence indicated on the left axis), indicative of homozygosity and LOH in a population with mixed clonality. (B-C) Likewise, a C to T mutation in TET2 exon 7 is found at 69% RMA and another in exon 10 at 22% RMA, respectively, again indicative of multiple and distinct disease clones. The sequence coverage (number of reads) across the regions is indicated outside or inside the right axis in panel A or panels B and C, respectively, and traced by the blue lines in all cases. (D) Consistent with the sequence data, SNP6 array data show a region with LOH, indicative of UPD, highlighted by the green bar. The top panel represents a smooth copy number signal plot and a copy number of 2. The bottom panel shows individual genotypes for the SNP probes and a background of AB heterozygote calls consistent with mixed clonality.

Close Modal

or Create an Account

Close Modal
Close Modal