Medicine in the post-genomic era

Genome Medicine publishes peer-reviewed research articles, new methods, software tools, reviews and comment articles in all areas of medicine studied from a post-genomic perspective. Areas covered include, but are not limited to, disease genomics (including genome-wide association studies and sequencing-based studies), disease epigenomics, pathogen and microbiome genomics, immunogenomics, translational genomics, pharmacogenomics and personalized medicine, proteomics and metabolomics in medicine, systems medicine, and ethical, legal and social issues.


  • Rebecca Furlong, PhD, BioMed Central


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  • Image attributed to: Fig 1 from article, showing model of enhancer function

    Enhancer variants and common disease

    Scacheri and Corradin review experimental and computational approaches for identifying gene targets of enhancer variants, challenges for interpreting function, and implications for common diseases.

    Genome Medicine 2014, 6:85
  • Image attributed to: From Fig 6 of Lyon and colleagues

    INDEL calling WGS versus WES

    Characterization of calling errors for INDEL detection using Scalpel shows that calling improves with higher coverage,  is better with assembly-based callers is discordant between WGS and WES.

    Genome Medicine 2014, 6:89
  • Image attributed to: From Fig 1 of Hrdlickova and colleagues

    ‘Guilt by association’ in AID

    Genome-wide association studies mapped 90% of loci linked to autoimmune and immune-related diseases to non-coding regions.  A ‘guilt by association’ approach suggests a role for lncRNAs in autoimmunity.

    Genome Medicine 2014, 6:88
  • Image attributed to: breast tumor via Wikimedia commons

    Immune metagene roles in therapy response

    Gene expression signatures of infiltrating immune cells provide prognostic and therapy-predictive information for breast cancer and are affected by tumor proliferative capacity and intrinsic subtype.

    Genome Medicine 2014, 6:80
  • Image attributed to: Figure from the review by Ritchie and Flicek

    Annotating genomic sequences

    Paul Flicek and Graham Ritchie review computational approaches to functionally annotating the ‘variome’. Such approaches are needed as the number of identified variants in genomic sequences grows.

    Genome Medicine 2014, 6:87
  • Image attributed to: Greenland national park from Wikimedia commons Erick Christensen

    Isolated population genomics

    Founder populations can provide a unique and powerful resource for the identification of low frequency and rare variants of direct medical consequence and begin to pinpoint the underlying mechanism.

    Genome Medicine 2014, 6:83
  • Image attributed to: Figure from Benson and colleagues colleagues

    Modules, networks and disease mechanisms

    Mikael Benson and colleagues explain how and why systems medicine, and specifically network approaches, can be used to assist clinical decision making and identify underlying disease mechanisms

    Genome Medicine 2014, 6:82
  • Image attributed to: From Fig 2 from Zhao and colleagues

    Protein pockets guide cancer driver discovery

    A computational approach to investigate 1.2 million somatic mutations in 36 cancer types using 3D protein structure information to identify putative cancer drivers and drug response biomarkers.

    Genome Medicine 2014, 6:81

Featured free review

In search of new treatment for chronic painIn search of new treatment for chronic pain

Stephen McMahon and colleagues review treatments for pain relief, which are often inadequate, and discuss how understanding of the genomic and epigenomic mechanisms might lead to improved drugs.

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genomics to diseases mechanisms
Cancer Epigenomics

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ISSN: 1756-994X