Literature-driven extraction and computational prediction of causal statements linking genetic variants to biological processes, pathways and phenotypes.

Abstract excerpt

Understanding the mechanistic basis of pathogenic genetic variants requires reconstructing the molecular pathways connecting the variant, via a chain of molecular intermediates, to a disease-causing biological process and phenotype. However, a literature-wide assembly of causal networks connecting variants, molecular pathways, biological processes and phenotypes has not been previously available. To create such a...

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