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.
- Discovery Research /
- Genetic Diseases
Detect structural variations, unbiased and genome-wide with Bionano Genome Imaging at high sensitivities and extremely low false positive rates. Discover the variants that are missed by short and long read sequencing with one powerful workflow.
Bionano finds the variants NGS can’t see
Structural variants (SVs) make up the majority of human genomic variation, driving genetic diversity but contributing to genetic diseases. SVs are frequently flanked by repetitive sequences which are challenging or impossible for current sequencing technologies to decipher. Bionano Genome Imaging reveals SVs with up to 99% sensitivity, even at allele fractions as low as 1%, which is not possible using other genomics technology.