HIGHLIGHTS
- who: Bian Li from the Vanderbilt University Medical Center, Nashville, TN, USA have published the research: The 3D mutational constraint on amino acid sites in the human proteome, in the Journal: NATURE COMMUNICATIONS NATURE COMMUNICATIONS
- what: The authors show that the framework captures broad missense variant intolerance at the 3D spatial level across the human proteome. The authors demonstrate the utility of COSMIS in variant interpretation and in revealing structural insights into the pathogenic mechanisms of diseasecausing variants. The authors propose that the COSMIS framework will have broad applicability in answering diverse questions about variant . . .
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