Why predicting the phenotypic effect of mutations is hard

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By now, we’re probably all  familiar with Niels Bohr’s famous quote that “prediction is very difficult, especially about the future”. Although Bohr’s experience was largely in quantum physics, the same problem is true in human genetics. Despite a plethora of genetic variants associated with disease – with frequencies ranging from ultra-rare to commonplace, and effects ranging from protective to catastrophic – variants where we can accurately predict the severity, onset and clinical implications are still few and far between. Phenotypic heterogeneity is the norm even for many rare Mendelian variants, and despite the heritable nature of many common diseases, genomic prediction is rarely good enough to be clinically useful.

Read the full post here: Why predicting the phenotypic effect of mutations is hard

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