Schierding William, Cutfield Wayne S, O'Sullivan Justin M
Liggins Institute, University of Auckland Auckland, New Zealand.
Liggins Institute, University of Auckland Auckland, New Zealand ; Gravida - National Centre for Growth and Development Auckland, New Zealand.
Front Genet. 2014 Feb 18;5:39. doi: 10.3389/fgene.2014.00039. eCollection 2014.
Genome wide association studies are central to the evolution of personalized medicine. However, the propensity for single nucleotide polymorphisms (SNPs) to fall outside of genes means that understanding how these polymorphisms alter cellular function requires an expanded view of human genetics. Integrating the study of genome structure (chromosome conformation capture) into its function opens up new avenues of exploration. Changes in the epigenome associated with SNPs in gene deserts will allow us to define complex diseases in a much clearer manner, and usher in a new era of disease pathway exploration.
全基因组关联研究是个性化医疗发展的核心。然而，单核苷酸多态性（SNP）落在基因之外的倾向意味着，要理解这些多态性如何改变细胞功能，需要对人类遗传学有更广泛的认识。将基因组结构研究（染色体构象捕获）与功能研究相结合，开辟了新的探索途径。与基因沙漠中的SNP相关的表观基因组变化，将使我们能够更清晰地定义复杂疾病，并迎来疾病通路探索的新时代。
