It was established in 2009 as a companion journal to Genome Biology and is published continuously by BioMed Central.

The journal comprises six sections: 1) Genomics & epigenomics of disease, 2) Pharmacogenomics & personalized medicine, 3) Genomic epidemiology & public health genomics, 4) Proteomics & metabolomics in medicine, 5) Systems medicine & informatics, and 6) Ethical, legal & social issues, each with a dedicated editor.

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