When Human Molecular Genetics was founded more than a decade ago, its pages were full of linkage analyses of single gene defects. Over the years, the time taken to identify the causative gene has gone from years to months and many reports contain not only mapping and gene identification, but also functional analysis as well. More recently, technical advances in human genome mapping and sequencing analysis have resulted in a long-awaited identification of genes involved in complex diseases. Geneticists not only look at the millions of single base changes in disease but also at copy number variation, and methods are being developed that allow both common and rare variants to be identified. These studies are having profound effects on a molecular geneticist's ability to study diseases that were previously intractable such as schizophrenia, autism, type 2 diabetes and complex birth defects. As sequencing becomes cheaper and genomic technologies and resources develop further, there will be more tools to address the important questions in both basic and applied human genetics. The impact of this rapidly changing area is so profound that we recognized that the Journal needs a dedicated section devoted to this type of study with an expert in the area to oversee it.
We are very fortunate that Joel Hirschhorn has agreed to join us. He will be encouraging submissions to the Association Studies Section. The remit of the new section will be broad. We will welcome technically sound and compelling association studies, including new, strongly supported associations to diseases or quantitative traits (arising from genome-wide studies, studies of candidate genes or studies of structural variation), genome-wide association studies of interesting traits or diseases in large enough sample sizes to add useful data to the existing literature, definitive replications of associations that are not yet well-established, convincing non-replications of associations with strong prior evidence of validity or clarifications of well-studied associations where there have been ambiguous results to date. We will also welcome comprehensive exploration/fine-mapping and association testing at validated loci, extension of associated loci to previously unstudied ethnic groups that yield new insights, and studies of rare variants supported by association, segregation and/or functional data. We will also be interested in gene–gene and gene–environment interactions. We will of course continue to solicit the functional work that uncovers the molecular mechanisms by which human genetic variation (particularly validated associated variants) influences phenotype; these can be submitted through the usual mechanisms. The field has come a long way since the days of the founding fathers Haldane, Fisher and Wright whose main research tools were paper and ink!
We welcome Joel and look forward to working with him as we enter another exciting chapter in human genetics and in the evolution of Human Molecular Genetics .