Abstract
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.
Publisher
Public Library of Science (PLoS)
Reference5 articles.
1. Advances in clinical next-generation sequencing: target enrichment and sequencing technologies;LY Ballester;Expert Rev Mol Diagn,2016
2. Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.;H Stranneheim;Genome Med.,2021
3. Applications and analysis of targeted genomic sequencing in cancer studies;F Bewicke-Copley;Comput Struct Biotechnol J,2019
4. A clinician’s handbook for using ctDNA throughout the patient journey;SO Hasenleithner;Mol Cancer
5. BALSAMIC: Bioinformatic Analysis pipeLine for SomAtic MutatIons in Cancer (v8.2.10).;H Foroughi-Asl;Zenodo,2022