Human Mutation special issue on “Variant Effect Prediction"

Human Mutation, vol. 43, pp. 973–975

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.

Authors 3

1. Andreas Laner

   Medical Genetics Center

   Affiliation as printed

   MGZ ‐ Medizinisch Genetisches Zentrum Bayerstrasse 3‐5 80335 Munich Germany

   MGZ - Medizinisch Genetisches Zentrum, Bayerstrasse 3-5, 80335 Munich, Germany

2. Aleš Maver

   Ljubljana University Medical Centre

   Affiliation as printed

   Clinical Institute of Medical Genetics University Medical Centre Ljubljana Ljubljana Slovenia

   Clinical Institute of Medical Genetics, University Medical Centre Ljubljana, Ljubljana, Slovenia

3. Johan T. den Dunnen corresponding Aachen Human Genetics and Clinical Genetics

   Leiden University Medical Center

   Affiliation as printed

   Human Genetics and Clinical Genetics Leiden University Medical Center Leiden Netherlands

   Human Genetics and Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands