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9.0 years ago
adewale
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0
Having Identified a nucleotide change in a gene, how would we establish if it's pathogenic?
Having Identified a nucleotide change in a gene, how would we establish if it's pathogenic?
You would need empirical evidence that the mutation damages gene function so badly it causes a deleterious health phenotype. No computer can do that for you.
Making the mutation in a model organism is the only way to prove this.
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You need to understand what effect the mutation has and it how it affects the protein that it translates to. If you are asking for a a simple tool or straightforward or generic method ... there probably isn't one.
No (as others said). NGS tells you sequence, not function.