- Author
-
N. Lahrouchi
- Title
- Dissecting genetic risk in common and rare inherited disorders
- Supervisors
-
C.R. Bezzina
A.A.M. Wilde - Award date
- 21 October 2020
- Number of pages
- 394
- ISBN
- 9789464160925
- Document type
- PhD thesis
- Faculty
- Faculty of Medicine (AMC-UvA)
- Abstract
-
Susceptibility to the majority of human disease is to a varying extent determined by genetic alterations in an individual’s genome. This implies that the identification of genetic factors that predispose to human disease is important as it enables genetic testing that may contribute to diagnosis, risk stratification and prevention, and may provide inroads for the study of disease mechanisms. Developments in genomic technologies and the increased understanding of the nature of genetic variation in humans provide unprecedented opportunities for the discovery of genetic variation underlying inherited disorders. This thesis has utilized these developments to uncover genetic factors that determine susceptibility to a variety of common multifactorial traits and rare Mendelian disorders.
- Persistent Identifier
- https://hdl.handle.net/11245.1/05fbc229-134d-4c19-8e52-524e9e209e55
- Downloads
-
Thesis (complete)
Front matter
1.1: The genetic architecture of common and rare diseases
1.2: Outline of this thesis
2: Genetics of sudden cardiac death
3: Transethnic genome-wide association study provides insights in the genetic architecture and heritability of long QT syndrome
4: Next-generation sequencing in post-mortem genetic testing of young sudden cardiac death cases
5: Utility of post-mortem genetic testing in cases of sudden arrhythmic death syndrome; Editorial comment: Holistic approach to determine cause of autopsy-negative sudden natural death
6: The yield of post-mortem genetic testing in sudden death cases with diagnostic and autopsy findings of uncertain significance during autopsy
7: Exome sequencing identifies primary carnitine deficiency in a family with cardiomyopathy and sudden death
8: Bi-allelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy
9: Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly
10: Loss-of-function variants in POPDC2 cause an autosomal-recessive cardiac disorder of hypertrophic cardiomyopathy, with sinus and AV-node dysfunction
11: Genome-wide association studies of cardiac electrical phenotypes
12: Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals
13: Predicting risk for adult-onset sudden cardiac death in the population
14: Summary, general discussion and future directions
15: Summary in Dutch
Curriculum vitae; List of publications; Portfolio; Acknowledgements
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