Genome Medicine announces ‘Genomics to disease mechanisms’ special issue

May 2014 – See Call for papers and details below.

Genome Medicine would like to announce a special issue on ‘From genomics to disease mechanisms’, which is planned for autumn 2014. We are also delighted to announce that the guest editor will be Jay Shendure, from University of Washington School of Medicine, US. We are now inviting Research, Method, Software or Database manuscript submissions for publication in this issue.

We will consider manuscripts describing insights into, or developing methods for studying, all aspects of steps required to identify causal variants and probe their function. The special issue will also include commissioned, topical Reviews and Opinions, written by leaders in the field including Stephen Kingsmore, Julian Knight and Brendan Keating.

Now that sequencing has moved into the clinic, researchers and clinicians are working together to understand the genomic mechanisms that underlie disease. We are moving from an era of association studies to functional studies that are beginning to reveal the cause of the clinical phenotype. A multi-disciplinary and multi-omic approach will be required to explain how genotypes give rise to phenotypes.

Topics covered

*Genome-wide association studies
*Exome and whole genome studies for disease diagnosis and characterization
*Functions of non-coding RNAs in disease
*Databases of phenotype and genotype
*Bioinformatic approaches to identifying disease-causing mutations
*Pre-clinical models for testing genomic hypotheses
*Multi-omics and systems biology approaches to uncover disease mechanisms
*Large-scale functional screening
*The effect of cis-regulatory elements on phenotype

The deadline for submissions is 15th June 2014. To submit your manuscript, please use our online submission system and indicate in your covering letter that you would like the article to be considered for the special issue. If you would like to enquire about the suitability of a study for consideration, please email a presubmission enquiry to

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