Alastair Kent

TL;DR: The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations, and has reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-generation sequencing, deep exome sequencing, and dense microarray genotyping.

TL;DR: The HapMap will allow the discovery of sequence variants that affect common disease, will facilitate development of diagnostic tools, and will enhance the ability to choose targets for therapeutic intervention.

TL;DR: A map of unbalanced SVs is constructed based on whole genome DNA sequencing data from 185 human genomes, integrating evidence from complementary SV discovery approaches with extensive experimental validations, and serves as a resource for sequencing-based association studies.

TL;DR: The multicriteria decision analysis approach piloted works and could be developed for use by payers and health technology assessment bodies.

TL;DR: This paper outlines a proposal to establish a “collaboratory” for ELSI research to enable it to become more coordinated, responsive to societal needs, and better able to apply the research knowledge it generates at the global level.