一个高度注释的韩国个体的全基因组序列
Jong-Il Kim1, Young Seok Ju, Hansoo Park
1Genomic Medicine Institute, Medical Research Center, Seoul National University, Seoul 110-799, Korea.
Nature
|July 10, 2009
概括
本研究提出了首个高度注释的韩国个体 (AK1) 全基因组序列. 这为了解人类遗传多样性和潜在的医学现象型提供了有价值的数据.
科学领域:
- 基因组学就是基因组学.
- 人类遗传学 人类遗传学
- 生物信息学是一种生物信息学.
背景情况:
- 个人基因组测序正在迅速发展.
- 以前的全基因组序列代表了有限的种族多样性 (非洲人,欧洲人,中国人).
研究的目的:
- 为韩国个人 (AK1) 提供高度注释的全基因组序列.
- 在基因组数据库中扩大人类种族多样性的代表性.
- 识别遗传变异和潜在的医学现象型.
主要方法:
- 组合方法:全基因组枪枪测序 (27.8倍覆盖),向细菌人工染色体测序,以及高分辨率比较基因组杂交.
- 使用定制微阵列,拥有超过2400万个探头.
- 将单核酸多形态 (SNP) 和插入/删除多形态 (indels) 与NCBI的参考和分析对齐.
主要成果:
- 为韩国个体AK1.1生成了一个高度注释的全基因组序列.
- 确定了大约345万个单核酸多态 (SNP),包括10162个非同义SNP.
- 检测到170,202个插入/删除多态 (indels) 和可靠的副本数变体.
- 标注与已识别的遗传变异相关的潜在医学现象型.
结论:
- AK1基因组序列丰富了现有的人类基因组数据的多样性.
- 多样化的全基因组序列的整合有助于理解遗传祖先,迁移和人口动态.
- 鉴定的变异为未来的临床和人口遗传研究提供了基础.
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