通过结合医疗保健和研究数据发现的28种遗传疾病的证据
Joanna Kaplanis1, Kaitlin E Samocha1, Laurens Wiel2,3
1Human Genetics Programme, Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, UK.
Nature
|October 15, 2020
概括
研究人员通过分析超过31,000个家庭的外基因数据, 确定了285个与发育障碍相关的基因, 其中包括28个新基因. 许多与疾病相关的基因仍未被发现.
科学领域:
- 遗传学
- 发育生物学
- 生物信息学
背景情况:
- 蛋白质编码基因的新突变已被认为是发育障碍的原因.
- 已知与疾病相关的基因仅解释了这些疾病中观察到的多余新突变的一小部分.
- 识别新基因对于全面了解发育障碍病因至关重要.
研究的目的:
- 识别与发育障碍相关的以前未被描述的基因.
- 开发和应用一种用于检测基因特异性新突变的统计方法.
- 扩大涉及人类发育障碍的基因目录.
主要方法:
- 整合了31058个父子三组的健康和研究外体序列数据.
- 开发基于模拟的统计测试,以确定 de novo 突变的丰富性.
- 对发育障碍个体的基因特异性突变率的分析.
主要成果:
- 鉴定了285个显著相关的基因,其中28个与发育障碍有关.
- 蛋白质编码基因的大量新突变仍然没有解释.
- 建模表明可能有1000多个额外的发育障碍基因未被发现,可能具有较低的透性.
结论:
- 这项研究显著扩大了与发育障碍相关的基因列表.
- 仍有大量发育障碍基因需要进一步研究.
- 获得临床诊断外体数据对于完成发育障碍的遗传地图至关重要.
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