Bioinformatics Flashcards
Why is OMIM useful
∗ Allows us to find the genes involved
∗ Gives a comprehensive clinical synopsis
∗ Gives the mode of inheritance
what online resources except OMIM are present
‘GeneReviews’ gives expert, up-to-date clinical and molecular information, including on diagnosis, management, prevalence and genetic counselling
what systems helps you to determine how you can make a molecular diagnosis for a condition.
Google UKGTN - UK Genetic Testing Network.
Will tell you what genetic testing is available
how much it costs and how long it takes
required testing criteria
multi gene panel options
How do you interpret a mutational analysis report.
∗ Read the report’s small print
∗ Is further work recommended? e.g. dosage studies, parental studies, segregation studies, RNA work
∗ Is the gene alteration identified classed ‘pathogenic’? Enough people have been studied to have the mutation, which causes similar symptoms, and hence the condition suggested.
∗ Evidence from mutation databases and the literature of previous reports, in silico studies suggested altered function/splicing
∗ Has an variant of uncertain clinical significance been identified (UV
what does array CGH show
∗ Imbalances at the chromosomal level.
∗ Copy number variation accounting for learning/behavioural/congenital anomaly phenotypes
what different phenotypes can affect copy number variations
accounting for learning/behavioural/congenital anomaly phenotypes
what is a disadvantage of microarray CGH
∗ Multiple genes may be deleted or duplicated.
∗ Needs laboratory and clinical joint interpretation as to the clinical significance,
what programme is used to find evidence about other unrelated individuals with a similar imbalance
dicipher.
what tests are carried out before molecular tests when a person presents with abnormalities
clinical tests
investigation e.g. FBC, Brain imaging, Creatinine kinase etc.
