Genomics

Mutation effects predicted from sequence co-variation (EVmutation)

variant annotation

By [Hopf and Marks, NBT, 2017] Methods Motivation: pairwise correlation measures such as mutual information cannot distinguish direct and indirect coupling. Using a model such as MRF enables this: e.g. suppose we have energy terms A-B and B-C, then this will explain away coupling of A-C. Model: given sequence alignment, treats all sequences as samples from a stationary distribution. The distribution is determined by the fitness (or energy) of the sequence.

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