Identifying the genetic constraint characteristics and biological correlates of sudden unexplained death susceptibility genes
Lin, J.; Xu, C.; Shen, Q.; Tao, R.; Wang, S.
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Sudden unexplained death (SUD) refers to sudden death in which the cause of death could not be established after a comprehensive medico-legal investigation, including pathological/toxicological assessment and forensic investigation of the circumstances of death. In the past decade, molecular autopsy has proved to be an efficient diagnostic tool in the multidisciplinary management of SUD. Though numerous pathogenic/likely pathogenic (P/LP) variants have been identified, there is still a large proportion of SUD cases without clear molecular autopsy findings, suggesting that the genetic predisposition contributing to SUD might be more complicated than expected. In this study, we analyzed published datasets to characterize the distribution pattern of rare P/LP variants. Enrichment analyses were subsequently conducted to identify the most affected canonical pathways/biological processes and phenotypes/cell types with strongest correlation to SUD. In addition, the constraint metrics of genes harboring P/LP variants were also assessed to investigate the role of selective pressure in shaping the genetic features of SUD.
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