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,


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  • Image attributed to: From Fig 4 Van Allen and colleagues

    NGS-guided cancer therapy

    Jeffrey Gagan and Eliezer Van Allen review how next-generation sequencing can be incorporated into standard oncology clinical practice and provide guidance on the potential and limitations of sequencing.

    Genome Medicine 2015, 7:80
  • Image attributed to: From Fig 3 Chen and colleagues


    A platform for managing clinical exome sequencing data that includes data entry, distribution of work assignments, variant evaluation and review, selection of variants for validation, report generation.

    Genome Medicine 2015, 7:77
  • Image attributed to: By apple2000

    Semantic workflow for clinical omics

    A clinical omics analysis pipeline using the Workflow Instance Generation and Specialization (WINGS) semantic workflow platform demonstrates transparency, reproducibility and analytical validity.

    Genome Medicine 2015, 7:73
  • Image attributed to: From Figure 5_Varadan et al

    Detection of somatic copy number alteration

    A novel framework for detection of somatic copy number alterations across WES platforms identifies mutational landscape and genomic aberrations in African American colon cancers.

    Genome Medicine 2015, 7:69
  • Genomic risk scores for celiac disease

    An approach targeting genetically at-risk sub-groups, generates genomic risk scores for celiac disease with better performance than traditional approaches.

    Genome Medicine 2015, 7:72
  • Image attributed to: From Fig 6 Patwardham et al.

    Augmented exome sequencing

    Comparison of whole exome and genome sequencing performance on clinically relevant partsof the genome shows that augmented exome sequencing provides clinical grade coverage and sensitivity.

    Genome Medicine 2015, 7:71
  • Image attributed to: Plastic pipes via wikimedia commons

    Cpipe clinical diagnostic pipeline

    An exome and targeted sequencing analysis pipeline designed specifically to support clinical needs. It is open source, and its design has been informed by expertize from seven different institutions.

    Genome Medicine 2015, 7:68
  • Image attributed to: Detail of Figure 2 from Crosslin et al.

    A pilot for incorporation of genetics into the EHR

    Study design and algorithms developed to select participants with greatest potential for actionable variants and variants with highest impact to be incorporated in the EHR in the context of eMERGE.

    Genome Medicine 2015, 7:67

Featured 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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call for papers: Diagnostic Genomics
call for papers: immunogenomics in health and disease
Open access reviews
Variant calling


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Article collections

  • Diagnostic genomics
    Edited by: Prof James Lupski, Dr Joris Veltman
    Published: 1 July 2015
    Last updated: 30 July 2015

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ISSN: 1756-994X