Unified views on variant impact across many diseases.

Abstract excerpt

Genomic studies of human disorders are often performed by distinct research communities (i.e., focused on rare diseases, common diseases, or cancer). Despite underlying differences in the mechanistic origin of different disease categories, these studies share the goal of identifying causal genomic events that are critical for the clinical manifestation of the disease phenotype. Moreover, these studies face common...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Genome
• Share to Genomics
• Share to Mutation