Suppr超能文献

1005 个来自卡塔尔的全外显子组和基因组中的偶然和具有临床可操作性的遗传变异体。

Incidental and clinically actionable genetic variants in 1005 whole exomes and genomes from Qatar.

机构信息

GN Ramachandran Knowledge Center for Genome Informatics, CSIR Institute of Genomics and Integrative Biology(CSIR-IGIB), Mathura Road, Delhi, 110025, India.

Academy of Scientific and Innovative Research (AcSIR), CSIR-IGIB South Campus, Mathura Road, Delhi, 110025, India.

出版信息

Mol Genet Genomics. 2018 Aug;293(4):919-929. doi: 10.1007/s00438-018-1431-8. Epub 2018 Mar 20.

Abstract

Incidental findings in genomic data have been studied in great detail in the recent years, especially from population-scale data sets. However, little is known about the frequency of such findings in ethnic groups, specifically the Middle East, which were not previously covered in global sequencing studies. The availability of whole exome and genome data sets for a highly consanguineous Arab population from Qatar motivated us to explore the incidental findings in this population-scale data. The sequence data of 1005 Qatari individuals were systematically analyzed for incidental genetic variants in the 59 genes suggested by the American College of Medical Genetics and Genomics. We identified four genetic variants which were pathogenic or likely pathogenic. These variants occurred in six individuals, suggesting a frequency of 0.59% in the population, much lesser than that previously reported from European and African populations. Our analysis identified a variant in RYR1 gene associated with Malignant Hyperthermia that has significantly higher frequency in the population compared to global frequencies. Evaluation of the allele frequencies of these variants suggested enrichment in sub-populations, especially in individuals of Sub-Saharan African ancestry. The present study thereby provides the information on pathogenicity and frequency, which could aid in genomic medicine. To the best of our knowledge, this is the first comprehensive analysis of incidental genetic findings in any Arab population and suggests ethnic differences in incidental findings.

摘要

近年来,人们对基因组数据中的偶然发现进行了详细研究,特别是从基于人群的数据集进行研究。然而,对于这些偶然发现的频率,特别是在中东的种族群体中,人们知之甚少,这些群体以前没有被包括在全球测序研究中。卡塔尔一个高度近亲结婚的阿拉伯人群的外显子组和基因组数据集的可用性,促使我们探索该人群中这种大规模数据中的偶然发现。对来自卡塔尔的 1005 名个体的序列数据进行了系统分析,以研究美国医学遗传学与基因组学学院建议的 59 个基因中的偶然遗传变异。我们发现了四个具有致病性或可能致病性的遗传变异。这些变异发生在六个人身上,提示该人群中的发生率为 0.59%,远低于之前在欧洲和非洲人群中报道的发生率。我们的分析确定了一个与恶性高热相关的 RYR1 基因中的变体,其在该人群中的频率明显高于全球频率。对这些变体的等位基因频率的评估表明,亚群中存在富集,特别是在具有撒哈拉以南非洲血统的个体中。本研究提供了有关致病性和频率的信息,这可能有助于基因组医学。据我们所知,这是首次对任何阿拉伯人群中的偶然遗传发现进行全面分析,并表明偶然发现存在种族差异。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验