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在人类基因组测序时代的基因组分析
Tuuli Lappalainen1, Alexandra J Scott2, Margot Brandt1
1New York Genome Center, New York, NY, USA; Department of Systems Biology, Columbia University, New York, NY, USA.
Cell
|March 23, 2019
概括
负担得起的基因组测序正在推动人类遗传学研究. 然而,对科学家来说, 分析和解释这大量的遗传数据仍然是一个重大挑战.
科学领域:
- 人类遗传学
- 基因组学
- 生物信息学
背景情况:
- 负担得起的基因组测序技术正在使大规模的人类遗传学研究成为可能.
- 数以千计至数以百万计的人类基因组正在全球范围内进行测序,
- 基因组数据的生成现已成为常规,但分析和解释存在重大挑战.
研究的目的:
- 审查目前用于遗传变异发现,基因型和功能解释的技术.
- 讨论基因组分析和解释的未来进展.
- 突出研究人类常见和罕见疾病的含义.
主要方法:
- 对遗传变异发现和基因定型的现有技术进行审查.
- 检查全基因组功能基因组方法来预测和测量变异的功能效应.
- 专注于通过全基因组测序识别的生殖系变异.
主要成果:
- 基因组测序数据的产生已经成为常规.
- 基因组分析和解释面临许多限制和警告.
- 在解释疾病研究的遗传变异方面需要取得进展.
结论:
- 尽管测序方面取得了进展,但对于实现人类遗传学研究的全部潜力而言,强有力的基因组分析和解释至关重要.
- 未来的工作应该集中在改进基因变异的功能解释方法上.
- 这项改进的解释将有助于我们更好地了解人类的常见疾病和罕见疾病.
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