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
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.
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.
An R package that integrates functional annotation and biological knowledge to prioritize candidate functional variants, particularly in non-coding regions.
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.
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.
Web-based annotation and filtering platform to identify variants with allele frequencies, functional effects and pathogenicity prediction, plus connection to Galaxy.
Peter Robinson discusses approaches to sharing genomic data without infringing patient confidentiality, such as ClinVar, DECIPHER and a recent federated structure.
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.
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