Genome sequencing for diverse samples.

Study design: what was tested

The study assessed DNA extracted from five sample types using a range of commercially available kits that included different purification methods such as silica spin-columns, magnetic beads and alcohol precipitation.

The chemagic Prepito DNA Universal Kit was included for blood, DBS, and saliva. DNA quality was measured by the percentage of fragments greater than 10 kb and 60 kb. These fragment size thresholds were used as the primary quality indicators throughout the study.

Standard sequencing metrics were consistent across extraction methods

Across all sample types and extraction kits tested, including the chemagic Prepito kit, autosomal coverage and base call accuracy (Q30) remained stable. DNA quality, as measured by fragment integrity, did not meaningfully affect these standard metrics. The chemagic Prepito kit produced similar results when used with blood, DBS, and saliva samples.

For labs requiring higher throughput or greater automation, the same results can be achieved using the chemagic 360 or chemagic Prime™ instruments, which use the same chemistry.

DNA Fragment size is the key variable for advanced genomic analysis

While standard coverage metrics were robust, advanced genomic analyses, such as long-range phasing and structural variant detection, depended heavily on DNA fragment size. High molecular weight (HMW) DNA (> 50 kb) enabled longer phased genomic regions and better proximity-based insights.

Extraction methods that preserve DNA fragment integrity unlock more comprehensive genomic analysis capabilities. The chemagic separation technology has been established to efficiently isolate HMW DNA that can be applied to assays requiring high-integrity DNA, such as TruPath Genome and long read sequencing with Oxford Nanopore or PacBio sequencing platforms2. The gentle rotating rods minimize shearing forces and the no heating requirements for chemagic M-PVA Magnetic Bead chemistry, allow for highly intact isolated DNA suitable for even challenging downstream assays.

Input amount flexibility

The study tested DNA inputs ranging from 175 ng to 550 ng. Across this range, sequencing performance metrics — including coverage, proximity rates, phasing block NG50, and small variant calling — remained consistent.

This is particularly relevant for DBS samples, where available DNA yield is often limited. The chemagic Prepito kit was among the extraction methods validated for DBS, and in this context the entire extracted amount was used as input. The results here correlated with a recent study performed by the National Institute for Public Health and the Environment (RIVM) in Netherlands, where chemagic extraction outperformed various other methods in achieving both higher yields as well as high integrity DNA (> 40 kb)3.

Several studies demonstrate that high-quality genomic data can be generated from diverse samples. Whether starting from dried blood spots, saliva, or cell pellets, standard DNA metrics remained consistent across sample types. When DNA fragment integrity was preserved, advanced capabilities — including proximity-based phasing and structural variant detection — were also achievable.