About this Journal

Human Mutation is a peer-reviewed journal that offers publication of original research & reviews on broad aspects of mutation research in humans. Reports of novel DNA variations and their phenotypic consequences, reports of SNPs demonstrated as valuable for genomic analysis, descriptions of new molecular detection methods, and novel approaches to clinical diagnosis are welcomed. Novel reports of gene organization at the genomic level, reported in the context of mutation investigation, may be considered.

The journal provides a unique forum for the exchange of ideas, methods, and applications of interest to molecular, human, and medical geneticists in academic, industrial, and clinical research settings worldwide.

Sections include:

• Methodology
• Gene function
• Databases and bioinformatic tools
• Gene and phenotype
• Diagnostics

This journal is published by Hindawi as part of a publishing collaboration with John Wiley & Sons, Inc. It is a fully open access journal produced under the Hindawi and Wiley brands.

ISSN: 1059-7794 (Print) 

ISSN: 1098-1004 (Online) 

DOI: 10.1155/humu      

Content published prior to 2023 is hosted on the Wiley Online Library.

Human Mutation is an open access journal. All articles are immediately available to read and reuse upon publication. More information about our Open Access policy can be found on our copyright page.

Editorial enquiries should be directed to humu@hindawi.com.

General enquiries should be directed to help@hindawi.com.