Whole exome sequencing of FFPE samples-expanding the horizon of forensic molecular autopsies.

ABSTRACT: Forensic molecular autopsies have emerged as a tool for medical examiners to establish the cause of death. It is particularly useful in sudden unexplained deaths where the cause of death cannot be determined with a regular medical autopsy. We provide the first study of exome data from formalin-fixed paraffin-embedded samples (FFPE) paired with data from high-quality blood samples in forensic applications. The approach allows exploration of the potential to use FFPE samples for molecular autopsies and identify variants in extensive exome data. We leverage the high uniformity of the hybridization capture approach provided by Twist Bioscience to target the complete exome and sequence the libraries on a NextSeq 550. Our findings suggest that exome sequencing is feasible for 24 out of a total o

SUBMITTER: Adolfsson E 

PROVIDER: S-EPMC10247852 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature