Genetic analysis of sudden unexpected death cases: Evaluation of library preparation methods to handle heterogeneous sample material

نویسندگان

چکیده

Over the past years, next-generation sequencing (NGS) technologies revolutionized possibilities in a broad range of application areas. Also field forensic genetics, NGS continuously gained importance and attentiveness. A significant number sudden cardiac deaths (SCD) young is due to heritable arrhythmia syndromes emphasizing need examining genetic basis these cases also with regard identification relatives and/or patients being at risk. As result, high-throughput methods became increasing value molecular autopsy investigations enabling analysis spectrum genes. Most standard protocols are optimized for high-quality samples frequently not directly applicable challenging sample material. In present study, we intended examine comprehensive gene panel associated SCD inherited arrhythmogenic disorders. We compared three different hybridization-based library preparation order implement suitable workflow heterogeneous, as well diagnostic The results obtained indicated, that Illumina Nextera DNA Flex TruSeq were compatible exhibiting varying levels degradation. comparison, TruSight method resulted good data, but seemed be more dependent on integrity. evaluated our study restricted might helpful transferrable further research applications.

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ژورنال

عنوان ژورنال: Forensic Science International

سال: 2021

ISSN: ['0379-0738', '1872-6283']

DOI: https://doi.org/10.1016/j.forsciint.2021.110768