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,
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.
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.
A clinical omics analysis pipeline using the Workflow Instance Generation and Specialization (WINGS) semantic workflow platform demonstrates transparency, reproducibility and analytical validity.
A novel framework for detection of somatic copy number alterations across WES platforms identifies mutational landscape and genomic aberrations in African American colon cancers.
An approach targeting genetically at-risk sub-groups, generates genomic risk scores for celiac disease with better performance than traditional approaches.
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.
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.
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.
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