In cases of sudden death, where autopsies are blank, coroners face a great challenge in trying to elucidate the cause of death. In the last 20 years, the development of molecular techniques, especially next-generation sequencing (NGS), has allowed the analysis of sets of genes that cause different diseases, which are not observable during necropsy. However, with this methodology challenges may arise, a large amount of information is obtained, which makes its interpretation difficult, especially when, in some cases, antemortem clinical information or family members are not available to complement the genetic analyses, making the forensic context difficult. Additionally, the genetic heterogeneity and pleiotropism presented by different diseases must be considered.

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Complexity of Molecular Analysis by New Generation Sequencing in the Study of Sudden Cardiac Death Within the Forensic Context

  • Joseph Alape-Ariza,
  • Clara Isabel Bermudez-Santana

摘要

In cases of sudden death, where autopsies are blank, coroners face a great challenge in trying to elucidate the cause of death. In the last 20 years, the development of molecular techniques, especially next-generation sequencing (NGS), has allowed the analysis of sets of genes that cause different diseases, which are not observable during necropsy. However, with this methodology challenges may arise, a large amount of information is obtained, which makes its interpretation difficult, especially when, in some cases, antemortem clinical information or family members are not available to complement the genetic analyses, making the forensic context difficult. Additionally, the genetic heterogeneity and pleiotropism presented by different diseases must be considered.