Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing
| العنوان: | Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing |
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| المؤلفون: | Pier D. Lambiase, Cian Murphy, Teofila Bueser, Laura Ferrero-Miliani, Leema Robert, Aliceson O'Beirne, Gerry Carr-White, Eileen Firman, Martin Goddard, Petros Syrris, Diana Domingo, Victoria Murday, Henning Bundgaard, Martin Lowe, Anne White, Alexis Duncan, Iain Findlay, Simon K. Suvarna, Simon P. Fynn, Laurence Nunn, Chrysoula Dalageorgou, Vincent Plagnol, Nigel Wheeldon, Esther Zorio, Caroline Langman, Perry M. Elliott, Luis R. Lopes, William J. McKenna |
| المصدر: | EUROPACE r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe instname |
| سنة النشر: | 2015 |
| مصطلحات موضوعية: | 0301 basic medicine, Proband, Oncology, Exome sequencing, Male, 030204 cardiovascular system & hematology, Sudden cardiac death, NAV1.5 Voltage-Gated Sodium Channel, Cohort Studies, 0302 clinical medicine, Gene Frequency, Exome, Child, Brugada syndrome, Brugada Syndrome, Genetics, medicine.diagnostic_test, Middle Aged, Pedigree, Long QT Syndrome, Child, Preschool, Female, Autopsy, Long QT syndrome, Cardiology and Cardiovascular Medicine, Adult, medicine.medical_specialty, Adolescent, 03 medical and health sciences, Young Adult, Molecular autopsy, Clinical Research, Physiology (medical), Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Genetic Testing, Allele frequency, SADS, Genetic testing, business.industry, Infant, Sequence Analysis, DNA, medicine.disease, United Kingdom, Minor allele frequency, 030104 developmental biology, Death, Sudden, Cardiac, Case-Control Studies, Mutation, business |
| الوصف: | Aims The targeted genetic screening of Sudden Arrhythmic Death Syndrome (SADS) probands in a molecular autopsy has a diagnostic yield of up to 35%. Exome sequencing has the potential to improve this yield. The primary aim of this study is to examine the feasibility and diagnostic utility of targeted exome screening in SADS victims, utilizing familial clinical screening whenever possible. Methods and results To determine the feasibility and diagnostic yield of targeted exome sequencing deoxyribonucleic acid (DNA) was isolated from 59 SADS victims (mean age 25 years, range 1–51 years). Targeted exome sequencing of 135 genes associated with cardiomyopathies and ion channelopathies was performed on the Illumina HiSeq2000 platform. Non-synonymous, loss-of-function, and splice-site variants with a minor allele frequency |
| تدمد: | 1532-2092 1099-5129 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7af0da0288410a710e36a962a9b18370Test https://pubmed.ncbi.nlm.nih.gov/26498160Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....7af0da0288410a710e36a962a9b18370 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15322092 10995129 |
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