Case Unit 6 - Genomics Flashcards
What is genetic linkage?
Tendency for genetic sequences close together on the chromosome to be inherited together
What is linkage mapping?
Mapping of how disease and markers are inherited (pedigree)
What does GWAS stand for?
Genome wide association study
What does a GWAS do?
Identify genetic variants correlated with a disease
Similar to a screen - hypothesis free, not influenced by prior biological knowledge
How are results from GWAS presented?
Manhattan Plot
What are some of the problems with GWAS?
Difficult to map the signal to a gene
Population stratification - must control for ethnicity or it can look like there is an association when there isn’t
Signals have small effects so need big studies with lots of data - meta analysis
What is trio analysis?
Identifying variations in the offspring that are present in one or both parents, yielding clues to the inheritance of variations that may have potential health consequences
What is DAVID used for?
Shows patterns in families of genes, and the statistical probability that RNA is involved in the process
