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Genetic analysis of sudden unexpected death cases: Evaluation of library preparation methods to handle heterogeneous sample material
- Source :
- Forensic Science International. 322:110768
- Publication Year :
- 2021
- Publisher :
- Elsevier BV, 2021.
-
Abstract
- Over the past years, next-generation sequencing (NGS) technologies revolutionized the possibilities in a broad range of application areas. Also in the field of forensic genetics, NGS continuously gained in importance and attentiveness. A significant number of sudden cardiac deaths (SCD) in the young is due to heritable arrhythmia syndromes emphasizing the need of examining the genetic basis in these cases also with regard to the identification of relatives and/or patients being at risk. As a result, high-throughput methods became of increasing value in molecular autopsy investigations enabling the analysis of a broad spectrum of genes. Most standard protocols are optimized for high-quality samples and frequently not directly applicable to challenging forensic sample material. In the present study, we intended to examine a comprehensive gene panel associated with SCD and inherited arrhythmogenic disorders. We compared three different hybridization-based library preparation technologies in order to implement a suitable NGS workflow for heterogeneous, forensic as well as diagnostic sample material. The results obtained indicated, that the Illumina technologies Nextera DNA Flex and TruSeq were compatible with samples exhibiting varying levels of degradation. In comparison, the TruSight method also resulted in good sequencing data, but seemed to be more dependent on DNA integrity. The preparation protocols evaluated in our study are not restricted to molecular autopsy investigations and might be helpful for and transferrable to further forensic research applications.
- Subjects :
- Dna integrity
Heterogeneous sample
Computer science
Library preparation
010401 analytical chemistry
Sequencing data
High-Throughput Nucleotide Sequencing
Arrhythmias, Cardiac
DNA
Computational biology
01 natural sciences
Unexpected death
Genetic analysis
DNA sequencing
0104 chemical sciences
Pathology and Forensic Medicine
03 medical and health sciences
Death, Sudden, Cardiac
0302 clinical medicine
Gene panel
Humans
Genetic Testing
030216 legal & forensic medicine
Law
Subjects
Details
- ISSN :
- 03790738
- Volume :
- 322
- Database :
- OpenAIRE
- Journal :
- Forensic Science International
- Accession number :
- edsair.doi.dedup.....d491486d2430c073e1fa5235e0d1129d