This article appears in the following Briefings in Functional Genomics and Proteomics issue: Special Issue: Polymorphism, population genetics and natural variation [View the issue table of contents]
Special Issue Papers |
Sequencing Genomes: From Individuals to Populations
Corresponding author. Dr Kalim Mir, The Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN. E-mail: kalim.mir{at}well.ox.ac.uk
The whole genome sequences of Jim Watson and Craig Venter are early examples of personalized genomics, which promises to change how we approach healthcare in the future. Before personal sequencing can have practical medical benefits, however, and before it should be advocated for implementation at the population-scale, there needs to be a better understanding of which genetic variants influence which traits and how their effects are modified by epigenetic factors. Nonetheless, for forging links between DNA sequence and phenotype, efforts to sequence the genomes of individuals need to continue; this includes sequencing sub-populations for association studies which analyse the difference in sequence between disease affected and unaffected individuals. Such studies can only be applied on a large enough scale to be effective if the massive strides in sequencing technology that have recently occurred also continue.