From Genetics to Genomics: A Short Introduction for Pediatric Neurologists

Abstract

It is estimated that in humans approximately 50% of all 22500 genes are needed for the development and maintenance of the nervous system. The introduction of high-throughput technology in genetic analysis has therefore major implications, not only for the investigation of specific disease entities but also for the diagnostic workup of single individuals with neurologic disorders of genetic origin. A short primer for clinicians is presented, addressing aspects of current developments in medical genomics. Significant findings of the last years are exemplified in an educational manner to provide a basic understanding of disease mechanisms that were unraveled by recent genomic analysis.

Keywords

medical genomics - DNA copy number variations - genome-wide association study - whole exome sequencing - whole genome sequencing - missing heritability

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