精准理解和探究遗传致病因素:从孟德尔遗传病到遗传易感

Accurate understanding and exploration of genetic risk factors: from Mendelian inheritance diseases to genetic predispositions

随着高通量基因测序和大数据分析技术的推广应用,个体基因数据越来越容易获取,群体遗传学研究也已经进入了万人基因组时代。海量的数据积累及迅速增加的病例对照研究,为精准理解和探究遗传致病因素提供了良好的基础。本文介绍近年来的相关研究进展,并结合笔者的工作经验,提出遗传致病因素的冰山模型。

Personalized genetic data are becoming more easily available and the population genetics study has entered the 10 thousands human genome era thanks to the popularization and application of high-throughput sequencing and big data analysis techniques. Vast amounts of data accumulation and rapid increase in case-control study have laid a solid foundation for accurately understanding and exploring of genetic risk factors. This article put forward an iceberg model about genetic risk factors and diseases based on the research progress in recent years and the authors' work experience.