Can you use Next Generation Sequencing (NGS) establish if a gene is pathogenic
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9.0 years ago
adewale • 0

Having Identified a nucleotide change in a gene, how would we establish if it's pathogenic?

gene sequence • 1.6k views
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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.

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No (as others said). NGS tells you sequence, not function.

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9.0 years ago

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.

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9.0 years ago
jotan ★ 1.3k

Making the mutation in a model organism is the only way to prove this.

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