NGS method for parallel processing of high quality, damaged or fragmented input material using target enrichment.

Lyander A, Gellerbring A, Hägglund M, Elhami K, Wirta V

PLoS ONE 19 (5) e0304411 [2024-05-29; online 2024-05-29]

Next-generation sequencing (NGS) has been increasingly popular in genomics studies over the last decade and is now commonly used in clinical applications for precision diagnostics. Many disease areas typically involve different kinds of sample specimens, sample qualities and quantities. The quality of the DNA can range from intact, high molecular weight molecules to degraded, damaged and very short molecules. The differences in quality and quantity pose challenges for downstream molecular analyses. To overcome the challenge with the need of different molecular methods for different types of samples, we have developed a joint procedure for preparing enriched DNA libraries from high molecular weight DNA and DNA from formalin-fixed, paraffin-embedded tissue, fresh frozen tissue material, as well as cell-free DNA.

Clinical Genomics Stockholm [Technology development]

PubMed 38809937

DOI 10.1371/journal.pone.0304411

Crossref 10.1371/journal.pone.0304411

pmc: PMC11135680
pii: PONE-D-23-41807