What to ExPecto from mutations

A computational framework called ExPecto can accurately predict from a DNA sequence the tissue-specific transcriptional effects of mutations, including those that are rare or that have not been observed. This framework is complementary to quantitative genetics and experimental approaches at a larger scale with lower cost. The researchers demonstrated the potential of this approach for interpreting clinically relevant mutations (even ones not captured by quantitative genetics) by successfully predicting disease risk. In the future, such analyses could be used for grouping patients in drug and other treatment trials, in disease subtyping and eventually in personalized treatment. The study, which was partly funded by the NHLBI, was published in the journal Nature Genetics.