Melbourne-based science journal ranks high on the world scale

Melbourne-based journal Human Mutation has become one of the top international journals in the genetics field.

The journal, which was founded in 1992 by Prof Richard Cotton at the Genomic Disorders Research Centre at St Vincent's Hospital in Melbourne, has raised its ranking to 12th out of 113 genetics journals published globally.

According to Cotton, this puts the monthly journal up with Nature Genetics, American Journal of Human Genetics and Human Molecular Genetics as one of the leading sources of information about genetics.

Cotton, who co-edits the journal along with Haig Kazazian at the University of Pennsylvania, said that the discovery of gene mutations causing human diseases was essential for medical research progress.

"Without proper documentation many of these discoveries go unnoticed; their documentation is critical for this information to be available to all researchers," he said.

The journal is the official journal for the Human Genome Variation Society, which grew out of the Human Genome Mutation Database Initiative, also based in Melbourne at the Genomic Disorders Research Centre. The initiative aims to catalogue all mutations and human variations.

"In 1994 we started an initiative to collect all mutations because not all were being collected, and they still are not," said Cotton.

He said that funding for the Initiative, which is accessible to researchers worldwide, was difficult to get. But the HGVS is working on an improved database for human variations and mutations.

Cotton noted that while initially the journal and the Initiative focused on disease-causing mutations, the increased interest in single nucleotide polymorphisms (SNPs) has meant that this data is also being collected and published.

SNPs might end up being very important for explaining human diseases, Cotton said, although he noted that it was hard to predict what impact the information would have on genetics in the long run.