Figure 2 | Genetics in Medicine

Figure 2

From: Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing

Figure 2

Sequencing accuracy. (a) Integrative Genomics Viewer (IGV) screenshot of representative genetic eye disease (GEDi) next-generation sequencing (NGS) validation data at chr15:78397352. The Omni 2.5 single-nucleotide polymorphism (SNP) data were determined to be incorrect in all samples because of a single-base deletion adjacent to the interrogated base that shifted the analyzed base. (b) IGV screenshot of the putative c.1028T>G mutation of FSCN2 in OGI-267–573, clarifying that the false-positive variant call was caused by misalignment of some NGS sequencing reads. (c) GEDi versus Omni 2.5 concordance histogram plot corresponding to the 2,443 shared SNPs between the GEDi design and Omni 2.5 SNP analysis of all 36 replicates of the four validation samples used in this study. MATCH, all GEDi NGS replicates matched Omni 2.5 SNP data; NO CALL, no NGS result; NO MATCH, ≥1 NGS replicate did not match Omni 2.5 SNP data; OMNI NO VALUE, no Omni 2.5 SNP result; NO CALL/MATCH, ≥1 NGS replicate had no result; all other NGS replicates matched Omni 2.5 SNP data.

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