Missense variants remain a challenge in genetic interpretation due to their subtle and context-dependent effects. While current prediction models perform well in known disease genes, generalizability is limited in unknown areas of the proteome.
In a new study published in Nature Genetics titled, “Proteome-wide model for human disease genetics,”researchers from Harvard Medical School and the Center for Genomic Regulation (CRG) in Barcelona have popEVE, a deep…
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