Literature DB >> 26243589

Massive parallel sequencing applied to the molecular autopsy in sudden cardiac death in the young.

M Brion1, B Sobrino2, M Martinez3, A Blanco-Verea3, A Carracedo4.   

Abstract

Sudden cardiac death in the young is a very traumatic event that occurs often in apparently healthy individuals without an explainable cause of death after a comprehensive medico-legal investigation. Knowledge about the pathologies with a risk of sudden death is increasingly showing a greater underlying genetic heterogeneity, which provides one of the main handicaps for molecular autopsy. On the other hand the enormous technological advances in sequencing technologies, allow us to analyse as many genes as we want at a cost increasingly reduced. The sum of these two factors (increased knowledge of genetics and available technologies) allow us to make an individualized study of the causes of sudden cardiac death in young adults, through massive sequencing of all potential genes involved in the process. We define this approach as massive genomic autopsy, and with this review we will try to explain the possible scenarios and methods available for its implementation.
Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Entities:  

Keywords:  Genomic autopsy; Next generation sequencing; Sudden cardiac death

Mesh:

Year:  2015        PMID: 26243589     DOI: 10.1016/j.fsigen.2015.07.010

Source DB:  PubMed          Journal:  Forensic Sci Int Genet        ISSN: 1872-4973            Impact factor:   4.882


  11 in total

1.  Postmortem genetic testing should be recommended in sudden cardiac death cases due to thoracic aortic dissection.

Authors:  Marina Gago-Díaz; Eva Ramos-Luis; Silvia Zoppis; Esther Zorio; Pilar Molina; Aitana Braza-Boïls; Juan Giner; Beatriz Sobrino; Jorge Amigo; Alejandro Blanco-Verea; Ángel Carracedo; María Brion
Journal:  Int J Legal Med       Date:  2017-04-08       Impact factor: 2.686

2.  Global genetic variation of select opiate metabolism genes in self-reported healthy individuals.

Authors:  F R Wendt; G Pathak; A Sajantila; R Chakraborty; B Budowle
Journal:  Pharmacogenomics J       Date:  2017-04-11       Impact factor: 3.550

Review 3.  Back to the Future - Part 2. Post-mortem assessment and evolutionary role of the bio-medicolegal sciences.

Authors:  Santo Davide Ferrara; Giovanni Cecchetto; Rossana Cecchi; Donata Favretto; Silke Grabherr; Takaki Ishikawa; Toshikazu Kondo; Massimo Montisci; Heidi Pfeiffer; Maurizio Rippa Bonati; Dina Shokry; Marielle Vennemann; Thomas Bajanowski
Journal:  Int J Legal Med       Date:  2017-04-25       Impact factor: 2.686

4.  Electric fences and accidental death.

Authors:  Michael Burke; Morris Odell; Heinrich Bouwer; Adam Murdoch
Journal:  Forensic Sci Med Pathol       Date:  2017-03-28       Impact factor: 2.007

5.  Multiallelic rare variants support an oligogenic origin of sudden cardiac death in the young.

Authors:  Hager Jaouadi; Yosra Bouyacoub; Sonia Chabrak; Lilia Kraoua; Amira Zaroui; Sahar Elouej; Majdi Nagara; Hamza Dallali; Valérie Delague; Nicolas Levy; Rym Benkhalifa; Rachid Mechmeche; Stéphane Zaffran; Sonia Abdelhak
Journal:  Herz       Date:  2020-01-22       Impact factor: 1.443

6.  Serum lipid feature and potential biomarkers of lethal ventricular tachyarrhythmia (LVTA) induced by myocardial ion channel diseases: a rat model study.

Authors:  Jiayan Wu; Qian Wu; WenTao Dai; Jing Kong; Junyao Lv; Xiaojun Yu; Xingxing Wang; Dian Wang
Journal:  Int J Legal Med       Date:  2017-10-23       Impact factor: 2.686

7.  Targeted next-generation sequencing detects novel gene-phenotype associations and expands the mutational spectrum in cardiomyopathies.

Authors:  Cinzia Forleo; Anna Maria D'Erchia; Sandro Sorrentino; Caterina Manzari; Matteo Chiara; Massimo Iacoviello; Andrea Igoren Guaricci; Delia De Santis; Rita Leonarda Musci; Antonino La Spada; Vito Marangelli; Graziano Pesole; Stefano Favale
Journal:  PLoS One       Date:  2017-07-27       Impact factor: 3.240

8.  Molecular Autopsy for Sudden Death in the Young: Is Data Aggregation the Key?

Authors:  Manuel Rueda; Jennifer L Wagner; Tierney C Phillips; Sarah E Topol; Evan D Muse; Jonathan R Lucas; Glenn N Wagner; Eric J Topol; Ali Torkamani
Journal:  Front Cardiovasc Med       Date:  2017-11-09

9.  Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.

Authors:  Chaoxia Lu; Wei Wu; Fang Liu; Kunqi Yang; Jiacheng Li; Yaping Liu; Rongrong Wang; Nuo Si; Peng Gao; Yongtai Liu; Shuyang Zhang; Xue Zhang
Journal:  J Transl Med       Date:  2018-08-30       Impact factor: 5.531

10.  Post-mortem genetic investigation of cardiac disease-associated genes in sudden infant death syndrome (SIDS) cases.

Authors:  Jasmin Köffer; Stefanie Scheiper-Welling; Marcel A Verhoff; Thomas Bajanowski; Silke Kauferstein
Journal:  Int J Legal Med       Date:  2020-08-12       Impact factor: 2.686

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