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Summary
The unfolding of the instructions encoded in the genome is triggered by the transcription of a gene's DNA sequence into RNA, and the subsequent processing of the primary RNA transcript to generate functional messenger RNAs (mRNAs), which in turn are translated into proteins. DNA sequence variation can influence every step along this pathway, often in association with disease, but the impact of specific sequence variants is difficult to predict. On page 144 of this issue, Xiong et al. (1) provide remarkably accurate in silico predictions of the effects of sequence variants on pre-mRNA splicing, a key RNA processing step, including their impact on various human pathologies.
