Congruency in the prediction of pathogenic missense mutations: state-of-the-art web-based tools.

Abstract excerpt

A remarkable degree of genetic variation has been found in the protein-encoding regions of DNA through deep sequencing of samples obtained from thousands of subjects from several populations. Approximately half of the 20 000 single nucleotide polymorphisms present, even in normal healthy subjects, are nonsynonymous amino acid substitutions that could potentially affect protein function. The greatest challenges...

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