Medical genetics

Researchers at the Wellcome Sanger Institute and EMBL’s European Bioinformatics Institute (EMBL-EBI) have developed a new approach to understanding the functional effects of genetic variations associated with a disease, even if they aren’t located in a gene. Using this approach could help scientists uncover previously unknown mechanisms that control gene activity and determine whether cell work normally or; in the case of genetic diseases, the cells malfunction. This knowledge will help drive new research and could identify new targets for drug development.

Functional enrichment.

The tool, called GARFIELD, uses a computational approach known as functional enrichment. This approach combines the positions on the genome of disease-associated DNA changes with information on the role of those regions. because In this way; the system highlights those variations that are known to produce changes in the activity of genes that are relevant to the disease being studied.

GARFIELD has been designed to take into account the major factors that could confuse the results of a study and can include weak disease associations to increase its power for insight. Because of these measures, the system provides the widest information on the largest number of disease associations.

Nature Genetics

In a paper in Nature Genetics, the researchers detail how they used the method to analyze the disease associations already detailed in publicly available genome-wide association studies’ summary statistics. They uncovered statistically significant associations for the majority of disease traits and; highlighted clear differences in the patterns of DNA changes associated with these different disease features. The findings both confirmed current understanding of key cell types involved in; and also reveal new areas of the genome that had not previously been implicated in disease.
To make GARFIELD more accessible to the wider research community, scientists have developed additional software to make the system easy to use. This includes building tools to visualize the results in a way that can show tens of thousands of potentially important disease associations in a comprehensive and comprehensible way.

Following the “finished,” euchromatic, haploid human reference genome sequence, the rapid development of novel, faster; and cheaper sequencing technologies are making possible the era of personalized human genomics. Personal diploid human genome sequences are generate; and each has contribute to our better understanding of variation in the human genome. We have consequently begun to appreciate the vastness of individual genetic variation from a single nucleotide to structural variants.

Genome-scale variation

Translation of genome-scale variation into medically useful information is, however, in its infancy. This review summarizes the initial steps undertaken in clinical implementation of personal genome information and ;describes the application of whole-genome and ; exome sequencing to identify the cause of genetic diseases and to suggest adjuvant therapies.
Better analysis tools and a deeper understanding of the biology of our genome are necessary in order to decipher; interpret, and optimize the clinical utility of what the variation in the human genome can teach us. Personal genome sequencing may eventually become an instrument of common medical practice; providing information that assists in the formulation of a differential diagnosis. We outline herein some of the remaining challenges.