27 July 2020
When diagnosing children with a rare genetic disease, speed is essential. Shaving a few hours off the diagnostic testing process means parents get answers and children may be treated faster. That’s why the newIllumina DNA PCR-Free Prep kitis such an important milestone for rare disease research.
与我们最近发起的音乐会TruSight Software Suite，DNA PCR-免费预备套件可用于Novaseq 6000，Nextseq 550，Miseq和MiniSeq。如今，DNA PCR-PREP是全基因组测序的不仅仅是罕见的疾病研究，而且还有额外的应用。与Trusight软件套件一起，这些工具以最快的速度实现最高质量，在集成平台中，在整个基因组中提供解释的变体。
We believe this improved workflow will make an impactful difference in the lives of children and their families.
这位最新的参赛者已在圣地亚哥，CA和其他高强度测序账户中留下了Rady Childs的基因组医学研究所。两年前，使用Novaseq 6000乐器和其他Illumina Technologies，Rady将目前的吉尼尼亚世界纪录为基因组诊断 - 从样品收集到诊断的19.5小时。这种新的PCR-Free预备套件和其他最新的改进可能有助于该研究所打破其记录，提供及时诊断信息来指导护理。
“Infants who suffer from rare genetic disorders are some of the most vulnerable patients we treat,” said Dr. Stephen Kingsmore, President and CEO of Rady Children’s Institute for Genomic Medicine. “Any technology that can reduce the time it takes to diagnose them is most welcome. We believe this improved workflow will make an impactful difference in the lives of children and their families.”
The new DNA PCR-Free Prep kit supports a wide range of DNA inputs and sample types, such as saliva, blood and dried blood spots. It reduces prep time, is easy to use and provides highly-accurate data quality. Combining on-bead tagmentation with PCR-free technology simplifies the whole-genome sequencing workflow. It delivers sequencing-ready libraries in a mere 90 minutes – three to four times faster than alternative solutions – minimizing hands-on time and enabling compatibility with low-input DNA workflows.
“These advanced new kits will have a tremendous impact on the marketplace, because for families with children facing rare genetic diseases, every minute matters,” said Jim Godsey, Vice President of Assay Development at Illumina. “By simplifying and accelerating next generation sequencing workflows with innovative products, we move closer to fulfilling the promise of precision medicine.”
随着新一代测序的发展,侦探hnology surrounding it has become faster, easier to use and more accurate. The new prep kit improves turnaround times to as low as 90 minutes. In addition, it reduces the sample input requirement to get high quality data from as low as 25 nanograms, requires only two touch points with automation and reduces the time it takes to process a genome down to 32 hours.
This new addition will be embedded in a comprehensive workflow that includes library prep, sequencing on NovaSeq 6000, or other instruments, and analysis through the DRAGEN sequence Hub platform that make up the TruSight Software Suite. This combination of products aims to set the standard for scalable and swift interpretation of genomic information, enabling whole-genome sequencing to become the standard of care in rare genetic diseases.
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