Understanding human genetic variation in the era of high-throughput sequencing.
The EMBO/EMBL symposium 'Human Variation: Cause and Consequence' highlighted advances in understanding the molecular basis of human genetic variation and its myriad implications for biology, human origins and disease. As high-throughput sequencing allows us to define genetic variation and its functional consequences at genome-wide resolution for a large number of people, important questions need to be asked about how to use new technologies to maximize the translational relevance of genetic research for society and the individual patient.
Knight
Julian C
JC
Wellcome Trust Centre for Human Genetics at the University of Oxford, Oxford, UK. julian@well.ox.ac.uk
D004194:Disease / Q000235:genetics; D014644:Genetic Variation; D015894:Genome, Human; D023281:Genomics / Q000379:methods*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008540:Meiosis; D009154:Mutation; D009369:Neoplasms / Q000235:genetics; D017422:Sequence Analysis, DNA / Q000379:methods*