Clinical Genetics Flashcards
1
Q
Definition of exome, proteome, transcriptome, metabolome, epigenome?
A
The Exome – sequencing all exons
The Proteome – the totality of proteins expressed (and modified)
The Transcriptome - gene expression
The Metabolome – a full description of the small molecules present in blood, cells, subcellular compartments …
The Epigenome – methylated CpGs etc
2
Q
Rett Syndrome gene?
A
MECP2 - interacts with chromatin
3
Q
Genetic diagnostic Test?
A
4
Q
A
