We’re back from ICoNS ’24, the International Consortium on Newborn Sequencing, recently held in New York City. Quantabio’s Subrata Panja, associate director of field applications, presented a poster and a short talk about a study we performed to evaluate the sparQ DBS Library Prep Kit, which was developed to isolate genomic DNA from dried blood spot samples and prepare PCR-free whole genome libraries for sequencing.
To see how this cost-effective kit could streamline the otherwise complex newborn sequencing workflows, we ran a pilot study using adult or cord blood samples spotted on filter paper. We used the sparQ DBS Library Prep Kit to lyse samples and isolate DNA, generating high molecular weight genomic DNA with a yield of 50 ng to 400 ng from one to eight DBS punches, 3 mm each. The kit also made it possible to prepare PCR-free whole genome libraries in a streamlined fashion. We performed sequencing on a NovaSeq X to produce 160 Gb reads from each sample.
In our study, the sequencing data provided more than 30-fold coverage across the entire genome. We saw a low duplication rate, and the number of SNPs, insertions, and deletions was low, indicating less error incorporated during the library preparation stage. Overall, the quality and yield of genomic DNA — despite its origins in a challenging sample type — made it suitable for sequencing and other analysis techniques.
The kit allows for fast, affordable DNA extraction and sample prep. The isolation step takes just 40 minutes to achieve high molecular weight genomic DNA, and the library prep process was completed within 90 minutes. This makes it a strong fit for any laboratory, but especially for public health labs that are often tasked with enormous responsibilities while being underfunded.
To validate this workflow further, we are collaborating with Mei Baker, a professor of pediatrics who specializes in genetics and metabolism at the University of Wisconsin-Madison.
The sparQ DBS Library Prep Kit is a comprehensive solution that covers everything from DNA extraction to library prep, streamlining the process and reducing costs to enable better results for sequencing of the newborns and associated research.
Learn more about how Quantabio supports newborn screening and sequencing research.