Article
The role of functional data in interpreting the effects of genetic variation.
Molecular biology of the cell - 5 Nov 2015
Young David L, Fields Stanley
Abstract excerpt
Progress in DNA-sequencing technologies has provided a catalogue of millions of DNA variants in the human population, but characterization of the functional effects of these variants has lagged far behind. For example, sequencing of tumor samples is driving an urgent need to classify whether or not mutations seen in cancers affect disease progression or treatment effectiveness or instead are benign. Furthermore,...
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