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.

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  • Rebecca Furlong, PhD, BioMed Central

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  • 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: 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
  • Image attributed to: From Fig 4 Evans and colleagues

    SURFRing functional variants

    An R package that integrates functional annotation and biological knowledge to prioritize candidate functional variants, particularly in non-coding regions.

    Genome Medicine 2014, 6:79
  • Image attributed to: From Fig 1 from Geschwind and colleagues

    Timothy syndrome: from expression to mechanism

    Co-expression network analysis using transcriptome data from iPSC-derived cortical neural progenitors and neurons identifies several modules and pathways specifically related to TS mutation status.

    Genome Medicine 2014, 6:75
  • Image attributed to: From Volinia and colleagues

    Ultra conserved RNA in glioma and stem cells

    Large-scale expression study of ultra conserved RNAs suggests uc.283-plus has a role in pluripotency and glioma. This study provides a starting point for exploring the mechanism of UCRs.

    Genome Medicine 2014, 6:76
  • Image attributed to: Fig 1 from Vandeweyer et al.

    VariantDB for annotating NGS data

    Web-based annotation and filtering platform to identify variants with allele frequencies, functional effects and pathogenicity prediction, plus connection to Galaxy.

    Genome Medicine 2014, 6:74
  • Image attributed to: Image from istockphoto

    Sharing of clinical genomic data

    Peter Robinson discusses approaches to sharing genomic data without infringing patient confidentiality, such as ClinVar, DECIPHER and a recent federated structure.

    Genome Medicine 2014, 6:78
  • Image attributed to: Figure 1, showing approaches for haplotyping

    Whole-genome haplotyping approaches

    Jared Roach and colleagues review advances in whole-genome haplotyping approaches, including molecular, genetic and population-based methods, and discuss the importance of haplotypes for genomic medicine.

    Genome Medicine 2014, 6:73

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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ISSN: 1756-994X