Human Mutation special issue on Variant Effect Prediction

The journal Human Mutation has as its principal focus variants in the human genome, covering the entire spectrum from methods used to detect variants, to ways of answering the ultimate question: What are the consequences of carrying a variant for the health of the individual? This comprehensive collection of articles provides an excellent perspective of the advancements in variant effect prediction in recent years, as well as some caveats and cautions in this developing field. We believe that this resource will help to drive further evolution of the variant effect prediction process toward more robust understanding of genotype-phenotype relationships through reliable variant classification.

Automated summary

The journal Human Mutation focuses on variants in the human genome and aims to understand the consequences of carrying a variant for individual health. This article collection provides insights into the advancements and limitations in variant effect prediction, aiming to improve our understanding of genotype-phenotype relationships.