What Methods Do You Use To Select Somes Genes From A List Of Mutation ?

Question

[Pierre Lindenbaum]

After you've mapped your short reads and found some new/old mutations, how would you select a list of candidate genes for a given genetic disease ?

For example, there is SIFT:

SIFT predicts whether an amino acid substitution affects protein function based on sequence homology and the physical properties of amino acids.

Did you try any other tool? Do those tools give the same results?

Answer 1

[Chris Miller]

• PolyPhen does something similar - predicts whether a mutation will alter protein function

• If you're lucky enough to have multiple samples, recurrence can be a strong indicator of functional importance.

[Eric Normandeau]

@Chris Miller Would you be aware of a similar tool for non-model species? Thanks.