This Perspective explores the application of machine learning toward improved diagnosis
and treatment. We outline a vision for how machine learning can transform three broad …

Protein stability predictions are becoming essential in medicine to develop novel
immunotherapeutic agents and for drug discovery. Despite the large number of …

BACKGROUND Understanding biology, particularly at the level of actionable drug
discovery, is often a matter of developing accurate stories about how proteins work. This …

Motivation The biological effects of human missense variants have been studied
experimentally for decades but predicting their effects in clinical molecular diagnostics …

To achieve the full potential of pharmacogenomics, one must accurately predict the
functional outcomes that arise from amino acid substitutions in proteins. Classically …

Establishing accurate and large-scale genotype–phenotype correlations and predictions of
individual response to pharmacological treatments are two of the holy grails of Personalized …

Amino acid variation at “rheostat” positions provides opportunity to modulate various aspects
of protein function–such as binding affinity or allosteric coupling–across a wide range …

We report that low level background splicing by normal genes can be used to predict the
likely effect of splicing mutations upon cryptic splice site activation and exon skipping, with …

Establishing accurate and large-scale genotype–phenotype correlations and predictions of
individual response to pharmacological treatments are two of the holy grails of Personalized …