12 de diciembre de 2017
Lectura de 2 min
Introducing Exome Sequencing with a Twist
Exome sequencing has become a popular alternative to whole genome sequencing due to lower sequencing costs and easier, faster bioinformatics analyses.
Exome sequencing has become a popular alternative to whole genome sequencing due to lower sequencing costs and easier, faster bioinformatics analyses. By focusing on sequencing the exomes, the protein-coding regions of the genome, researchers can identify many novel disease-causing genetic variants since an estimated 85 percent of mutations that cause Mendelian disorders (which are diseases caused by mutations in a single locus) reside within exome regions.
However, the tools available to perform exome sequencing experiments have not greatly improved in recent years. Until now!
Here at Twist Bioscience, we’ve repeatedly disrupted multiple industries with bold innovations. That’s why we’re excited to announce the Human Core Exome Enrichment System, a game-changing target enrichment solution. The Twist Bioscience exome kit cuts down on hands-on time requirements by featuring streamlined library prep and multiplexed enrichment workflows without compromising data quality. This product also decreases next-generation sequencing costs by using an improved, more focused capture probe design to target the most variants per sequencing dollar.
Furthermore, the Twist exome enrichment system leverages our high quality, silicon-based massively parallel, DNA synthesis platform to generate the capture probes. All probes are represented at the appropriate levels for extremely high uniformity enrichment, increasing the sequencing efficiency and lowering sequence requirements for deep target coverage.
The Twist Bioscience Human Core Exome Enrichment System also has several additional unique features to improve the enrichment quality and sequencing efficiency.
These features include double-stranded DNA probes to capture both strands of targeted regions and improve sensitivity, and NGS-based validation of the probes to ensure that all sequences are present, and in the appropriate amounts for the most uniform enrichment possible. Also featured are rapid turnaround time and small order formats for custom content to simplify pilot experiments, accelerating optimization times and decreasing time to assay scale-up.
Most labs currently spend more than $600 per sample for exome sequencing assays, including library preparation, enrichment, and sequencing. The improvements introduced by the Twist exome kit will lower your sequencing cost by more than 30 percent!
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