How to interpret the results of a genetic test: general flow-chart and common pitfalls

Unlike most other analytics in medicine, where automation is king even in the interpretation of the results, genetic testing still remains complex under all aspects. In particular for what concerns the interpretation of the results, despite the solid efforts made in developing artificial intelligence, the human factor is still pivotal and a good final outcome […]

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Polyphen/Polyphen-2

A tool to predict the effect of missense variants Polyphen, now available in its version Polyphen-2, predicts the impact of a missense variant (also referred to as nsSNP: non synonymous single nucleotide polymorphism) based on (1) protein sequence (2) phylogenetic information and (3) structural information. So Polyphen is able to do the so called functional annotation of missense variants. […]

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