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To the Editor: Each human exome contains thousands of nonsynonymous single-nucleotide variants (nSNVs) that have unknown biological effects. The potential impact of nSNVs on biological function is now routinely assessed using computational methods for application in biomedical research and clinical genome profiling reports. Of the variants receiving a non-neutral (function-damaging) prediction,… Download references

Evolutionary diagnosis method for variants in personal exomes