Human Mutation special issue on "Variant Effect Prediction". Issue 8 (15th July 2022)

• Record Type: Journal Article
• Authors: Laner, Andreas; Maver, Ales; den Dunnen, Johan T.
• Other Names: Laner Andreas guestEditor.; Maver Ales guestEditor.; den Dunnen Johan T. guestEditor.
• Is Part Of: Human mutation. Volume 43:Issue 8(2022)
• Page Start: 973
• Page End: 975
• Publication Date: 2022-07-15
• Subjects: bioinformatics -- classification -- sequencing -- variant; Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.24429
• Languages: English
• ISSNs: 1059-7794

Abstract

Abstract: 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.