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Twist Bioscience HQ
681 Gateway Blvd
South San Francisco, CA 94080
Targeted sequencing of 50+ pathogenic repeat expansions using Twist target enrichment & PacBio HiFi sequencing
The expansion of unstable genomic short tandem repeats (STRs) has been identified as the causal DNA mutation in more than 30 Mendelian diseases. PCR-based DNA fragment analysis, short-read sequencing, or legacy molecular genotyping methods like Southern blot are frequently used to analyze STR expansions, but are not capable of determining the exact length and sequence composition. Targeted sequencing allows for high-resolution characterization of dozens to thousands of gene regions at a scale and cost that is more accessible than whole genome sequencing.
