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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.

Original publication

DOI

10.1038/embor.2010.126

Type

Journal article

Journal

EMBO Rep

Publication Date

09/2010

Volume

11

Pages

650 - 652

Keywords

Disease, Genetic Variation, Genome, Human, Genomics, High-Throughput Nucleotide Sequencing, Humans, Meiosis, Mutation, Neoplasms, Sequence Analysis, DNA