Research
Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young D. Nicole R. Methner,1 Steven E. Scherer,2 Katherine Welch,1 Magdalena Walkiewicz,3 Christine M. Eng,3 John W. Belmont,3,4 Mark C. Powell,1 Viktoriya Korchina,2 Harsha Vardhan Doddapaneni,2 Donna M. Muzny,2 Richard A. Gibbs,2 Dwayne A. Wolf,1 Luis A. Sanchez,1 and Roger Kahn1 1
Harris County Institute of Forensic Sciences, Houston, Texas 77054, USA; 2Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA; 3Department of Molecular and Human Genetics, 4Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA Each year in the United States, thousands of cases of sudden and unexpected deaths of infants, children, and young adults are assigned an undetermined cause of death after postmortem investigation and autopsy. Heritable genetic variants have been suggested as the cause of up to a third of sudden death (SD) cases. Elucidation of the genetic variants involved in SD cases is important to not only help establish cause and manner of death of these individuals, but to also aid in determining whether familial genetic testing should be considered. Previously, these types of postmortem screenings have not been a feasible option for most county medical examiners’ and coroners’ offices. We sequenced full exons of 64 genes associated with SD in the largest known cohort (351) of infant and young SD decedents using massively parallel sequencing at
Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young D. Nicole R. Methner,1 Steven E. Scherer,2 Katherine Welch,1 Magdalena Walkiewicz,3 Christine M. Eng,3 John W. Belmont,3,4 Mark C. Powell,1 Viktoriya Korchina,2 Harsha Vardhan Doddapaneni,2 Donna M. Muzny,2 Richard A. Gibbs,2 Dwayne A. Wolf,1 Luis A. Sanchez,1 and Roger Kahn1 1
Harris County Institute of Forensic Sciences, Houston, Texas 77054, USA; 2Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas 77030, USA; 3Department of Molecular and Human Genetics, 4Department of Pediatrics, Baylor College of Medicine, Houston, Texas 77030, USA Each year in the United States, thousands of cases of sudden and unexpected deaths of infants, children, and young adults are assigned an undetermined cause of death after postmortem investigation and autopsy. Heritable genetic variants have been suggested as the cause of up to a third of sudden death (SD) cases. Elucidation of the genetic variants involved in SD cases is important to not only help establish cause and manner of death of these individuals, but to also aid in determining whether familial genetic testing should be considered. Previously, these types of postmortem screenings have not been a feasible option for most county medical examiners’ and coroners’ offices. We sequenced full exons of 64 genes associated with SD in the largest known cohort (351) of infant and young SD decedents using massively parallel sequencing at
