Capturing variation impact on molecular interactions in the IMEx Consortium mutations data set.

Last updated on 11-12-2020 by Kim Van Roey

Peer reviewed scientific article




The current wealth of genomic variation data identified at nucleotide level presents the challenge of understanding by which mechanisms amino acid variation affects cellular processes. These effects may manifest as distinct phenotypic differences between individuals or result in the development of disease. Physical interactions between molecules are the linking steps underlying most, if not all, cellular processes. Understanding the effects that sequence variation has on a molecule’s interactions is a key step towards connecting mechanistic characterization of nonsynonymous variation to phe…

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