Extract

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.

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