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The iPhone has never been called a reliable calling device.
This level of detection is at or below the level of reliable calling from recent published studies of targeted NGS in FFPE DNA [ 14, 20], suggesting a high probability of a false negative.
Various groups have shown that hybridizing single-blastomere WGA products on high-density SNP arrays allows reliable calling of chromosome aneuploidies using DNA copy-number and genotype information [ 39, 47, 51, 52].
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Only the most reliable calls were retained and used for further analysis, leaving us with a total of 1229 SNPs.
We eliminated all variants detected having less than 5x coverage, allowing at least 2 high-quality reads carrying the variant, since these parameters were already ascertained to produce reliable calls [6].
Only the most reliable calls were retained.
Technical replicates and signal intensities were verified; only the most reliable calls were retained.
Technical replicates and signal intensities were controlled and only the most reliable calls were retained.
In this sample, for BRAF, only wild-type sequence was detected, whereas no reliable call could be obtained for NF2.
The homozygous and heterozygous clusters were checked visually and revised, and only the most reliable calls were retained.
This interferes some with the ability to reliable call copy number state of individual exons from the pull down sequence data.
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Justyna Jupowicz-Kozak
CEO of Professional Science Editing for Scientists @ prosciediting.com