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. OGM allows for the direct measurement of the number of C3b/C4b binding domains for each haplotype in CR1, an Alzheimer-associated gene, in this subject with Alzheimer’s disease.
Ebbert MTW. Resolving complex genomic haplotypes in neurodegenerative disorders using Bionano Genomics Saphyr System. ASHG Bionano Symposium. 2019.