Browsing by Subject "Next-generation sequencing"
Now showing items 1-2 of 2
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Multiplex Target Enrichment Using DNA Indexing for Ultra-High Throughput SNP Detection.
(2011)Screening large numbers of target regions in multiple DNA samples for sequence variation is an important application of next-generation sequencing but an efficient method to enrich the samples in parallel has yet to be ... -
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes
(2023)Purpose: Structural variants (SVs) play an important role in inherited retinal diseases (IRD). Although the identification of SVs significantly improved upon the availability of genome sequencing, it is expected that ...