Question: What Methods Do You Use To Select Somes Genes From A List Of Mutation ?
gravatar for Pierre Lindenbaum
10.5 years ago by
France/Nantes/Institut du Thorax - INSERM UMR1087
Pierre Lindenbaum130k wrote:

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 ?

ADD COMMENTlink written 10.5 years ago by Pierre Lindenbaum130k
gravatar for Chris Miller
10.5 years ago by
Chris Miller21k
Washington University in St. Louis, MO
Chris Miller21k wrote:
  • 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.

ADD COMMENTlink written 10.5 years ago by Chris Miller21k

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

ADD REPLYlink written 10.5 years ago by Eric Normandeau10k
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