Resolving the Variable Genome and Epigenome in Human Disease

Abstract

The individual human genome and epigenome are being defined at unprecedented resolution by current advances in sequencing technologies with important implications for human disease. This review uses examples relevant to clinical practice to illustrate the functional consequences of genetic and epigenetic variation. The insights gained from genome-wide association studies are described together with current efforts to understand the role of rare variants in common disease, set in the context of recent successes in Mendelian traits through the application of whole exome sequencing. The application of functional genomics to interrogate the genome and epigenome, build up an integrated picture of the regulatory genomic landscape and inform disease association studies is discussed, together with the role of expression quantitative trait mapping and analysis of allele-specific gene expression.

Current knowledge and tomorrows challenges of breast, ovarian and prostate cancer genetics

“…In an attempt to predict future developments in the field, Professor Julian Knight gave an excellent presentation on the topic Resolving the variable genome and epigenome in human disease [9]. He described how advances in sequencing technologies will make it possible to define the human genome at a resolution not seen before.…”

Imaging Genetic Information

“…Almost all disease states can be attributed to genetic or epigenetic information found within the diseased host that is different from that of the normal host, with the exception of prion diseases [1][2][3][4]. The disease-causing genetic information might reside in the genomic DNA or RNA, or in a virus, bacterium, or other pathogen, or from alterations in the methylation pattern of DNA, which in turn alters RNA expression levels.…”