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,
Most current algorithms struggle to map mutational hot spots; a new approach, the Deep-Drilling with iterative Mapping (DDiMAP) method, retains variant allele patterns to aid in variant detection.
As more and more links are demonstrated between the microbiome and different types of disease, Fergus Shanahan discusses how the human microbiome could provide insight into novel therapies.
Development, validation and implementation of clinically beneficial molecular tumor analyses in routine healthcare for patients with breast cancer to improve their care, quality of life and outcome.
Methylome analysis of wilms tumors, nephrogenic rests and normal kidney tissues provides insight into tumor evolution and reveals potential markers to diagnose patients with bilateral disease.
A relationship between disease subtype in chronic lymphocytic leukemia and variation in gene expression suggests that variability has an effect on tumor adaptability and aggressiveness.
Timpson and Corbin discuss how a recent study looking at inactivating mutations in NPC1L1 provides insight into therapy with ezetimibe, used to reduce plasma cholesterol levels in coronary heart disease.
A novel method combining flow-sorting to separate tumor populations by ploidy with high-throughput sequencing shows promise to trace genome evolution in human cancer.
Disease-specific Bayesian models provide a robust, accurate and transparent framework to integrate multiple sources of evidence for the interpretation of novel variants from gene sequencing.
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