See camouflaged deletions other technologies miss

Many protein-coding exons are ‘camouflaged’ in NGS datasets because of variably-repeated binding domains—the exons occur in more than one gene or in tandem within the same gene, making correct alignment of short reads impossible. Saphyr allows for the direct measurement of the number of C3b/C4b binding domains for each haplotype in CR1, an Alzheimer associated gene, in this patient with Alzheimer’s Disease.