Medicine in the post-genomic era <\/p>\n
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. <\/p>\n
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DNA-PK inhibition boosts Cas9-mediated HDR <\/p>\n
Transient pharmacological inhibition of DNA-PKcs can stimulate homology-directed repair following Cas9-mediated induction of a double strand break, and is expected to reduce the downstream workload. <\/p>\n
Genomics of epilepsy <\/p>\n
Candace Myers and Heather Mefford review how advances in genomic technologies have aided variant discovery, leading to a rapid increase in our understanding of epilepsy genetics. <\/p>\n
CpG sites associated with atopy <\/p>\n
Thirteen novel epigenetic loci associated with atopy and high IgE were found that could serve 55 as candidate loci; of these, four were within genes with known roles in the immune response. <\/p>\n
Longitudinal 'omic profiles <\/p>\n
A pilot study quantifying gene expression and methylation profile consistency over a year shows high longitudinal consistency, with individually extreme transcript abundance in a small number of genes which may be useful for explaining medical conditions or guiding personalized health decisions. <\/p>\n
Ovarian cancer landscape <\/p>\n
Exome sequencing of mucinous ovarian carcinoma tumors reveals multiple mutational targets, suggesting tumors arise through many routes, and shows this group of tumors is distinct from other subtypes. <\/p>\n
NGS-guided cancer therapy <\/p>\n
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. <\/p>\n
ClinLabGeneticist <\/p>\n
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. <\/p>\n
Semantic workflow for clinical omics <\/p>\n
A clinical omics analysis pipeline using the Workflow Instance Generation and Specialization (WINGS) semantic workflow platform demonstrates transparency, reproducibility and analytical validity. <\/p>\n
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. <\/p>\n
View more review articles <\/p>\n
Errors in RNA-Seq quantification affect genes of relevance to human disease <\/p>\n
Robert C and Watson M <\/p>\n
Genome Biology 2015, 16:177 <\/p>\n
Exploiting single-molecule transcript sequencing for eukaryotic gene prediction <\/p>\n
Minoche AE, Dohm JC, Schneider J, Holtgrwe D, Viehver P, Montfort M, Rosleff Srensen T, Weisshaar B et al. <\/p>\n
Genome Biology 2015, 16:184 <\/p>\n
Analysis methods for studying the 3D architecture of the genome <\/p>\n
Ay F and Noble WS <\/p>\n
Genome Biology 2015, 16:183 <\/p>\n
Graded gene expression changes determine phenotype severity in mouse models of CRX-associated retinopathies <\/p>\n
Ruzycki PA, Tran NM, Kefalov VJ, Kolesnikov AV and Chen S <\/p>\n
Genome Biology 2015, 16:171 <\/p>\n
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Genome Medicine<\/a><\/p>\n","protected":false},"excerpt":{"rendered":" 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 Continue reading