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

• DOI: 10.1007/s00414-022-02906-x
• Publication Date: 2022-11-08T06:02:36Z
• Authors: Emma Adolfsson; Daniel Kling; Cecilia Gunnarsson; Jon Jonasson; Henrik Gréen; Anna Gréen
• Keywords: Exome; Concordance; Sudden Death

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 death cannot be determined with regular autopsy. We provide first study exome data from formalin-fixed paraffin-embedded samples (FFPE) paired high-quality blood forensic applications. The approach allows exploration potential use FFPE and identify variants extensive data. leverage high uniformity hybridization capture provided by Twist Bioscience target complete sequence libraries on NextSeq 550. Our findings suggest that sequencing feasible 24 out total 35 included samples. When successful, coverage across comparatively (> 90% covered 20X) uniform (fold80 below 1.5). Detailed variant comparisons matched show concordance few false (positive predictive value 0.98 sensitivity 0.97) no distinct artefacts. Ultimately, we apply carefully constructed gene panels stepwise manner find genetic associated clinical phenotype relevance