Sequence ambiguities are resolved and flanking regions surrounding targeted positions can be identified with conventional or next-generation sequencing, genotyping or DNA microarrays. The combination of large fragment capture (>20kb) and SNP-specificity along with highly flexible and automated use is a unique advantage over other front-end genome partitioning and multiplex amplification methods.
Genomic linkage and molecular haplotypes are reliably determined across highly difficult genomic regions, repeats, breakpoints or structural variants and can be extended into previously unknown sequence. This improves accuracy and reduces time for de-novo next-generation sequence assembly and region-specific paired-end strategies.
Causative sequence variants can be discovered by utilizing pre-existing, affected samples with SNP-associations based on prior genome-wide studies (GWAS). The genetic origin of specific physiological effects and related mechanisms of action for the cause or the progression of a disease can be understood, thereby leading to potential diagnostic or therapeutic intervention.