Journal article
Exome sequencing-based molecular autopsy of formalin-fixed paraffin-embedded tissue after sudden death
RD Bagnall, J Ingles, L Yeates, SF Berkovic, C Semsarian
Genetics in Medicine | NATURE PUBLISHING GROUP | Published : 2017
DOI: 10.1038/gim.2017.15
Abstract
Purpose:Sudden death in the young is a devastating complication of inherited heart disorders. Finding the precise cause of death is important, but it is often unresolved after postmortem investigation. The addition of postmortem genetic testing, i.e., the molecular autopsy, can identify additional causes of death. We evaluated DNA extracted from formalin-fixed paraffin-embedded postmortem tissue for exome sequencing-based molecular autopsy after sudden death in the young.Methods:We collected clinical and postmortem information from patients with sudden death. Exome sequencing was performed on DNA extracted from fixed postmortem tissue. Variants relevant to the cause of death were sought.Resu..
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Awarded by National Health and Medical Research Council
Funding Acknowledgements
J.I. is the recipient of a National Heart Foundation of Australia Future Leader Fellowship (100833). C.S. is the recipient of a National Health and Medical Research Council (NHMRC) Practitioner Fellowship (1059156). This study is funded in part by an NHMRC Project Grant (1046441).