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首页> 外文期刊>Genetics in medicine >Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics.
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Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics.

机译：鉴定1000个基因组项目的参与者中的平衡染色体重排部：对基因组结构变异的解释和临床细胞遗传学的未来的影响。

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摘要

Recent studies demonstrate that whole-genome sequencing enables detection of cryptic rearrangements in apparently balanced chromosomal rearrangements (also known as balanced chromosomal abnormalities, BCAs) previously identified by conventional cytogenetic methods. We aimed to assess our analytical tool for detecting BCAs in the 1000 Genomes Project without knowing which bands were affected. The 1000 Genomes Project provides an unprecedented integrated map of structural variants in phenotypically normal subjects, but there is no information on potential inclusion of subjects with apparent BCAs akin to those traditionally detected in diagnostic cytogenetics laboratories. We applied our analytical tool to 1,166 genomes from the 1000 Genomes Project with sufficient physical coverage (8.25-fold). With this approach, we detected four reciprocal balanced translocations and four inversions, ranging in size from 57.9?kb to 13.3?Mb, all of which were confirmed by cytogenetic methods and polymerase chain reaction studies. One of these DNAs has a subtle translocation that is not readily identified by chromosome analysis because of the similarity of the banding patterns and size of exchanged segments, and another results in disruption of all transcripts of an OMIM gene. Our study demonstrates the extension of utilizing low-pass whole-genome sequencing for unbiased detection of BCAs including translocations and inversions previously unknown in the 1000 Genomes Project.
机译：最近的研究表明，全基因组测序能够检测以前通过常规细胞遗传学方法鉴定的明显平衡的染色体重排（也称为平衡染色体异常，BCA）的隐秘重排。我们旨在评估我们的分析工具，用于检测1000个基因组项目中的BCA，而不知道哪些乐队受到影响。 1000个基因组项目提供了在表型正常对象中的结构变体的前所未有的集成图，但没有关于潜在包含具有明显BCAS的主体的信息，类似于在诊断细胞遗传学实验室中传统上检测到的那些。我们将分析工具应用于1000个基因组项目的1,166个基因组，具有足够的物理覆盖（8.25倍）。通过这种方法，我们检测到四个倒数平衡易位和四个倒置，大小范围为57.9？KB至13.3？MB，所有这些都被细胞遗传学方法和聚合酶链反应研究证实。这些DNA中的一种具有微妙的易位，由于交换段的条带模式和尺寸的相似性，并且另一个导致OMIM基因的所有转录物的破坏导致染色体分析。我们的研究表明，利用低通全基因组测序的延伸，以便在1000个基因组项目中先前未知的BCA检测，包括先前未知的易位和逆转。

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  • 来源
    《Genetics in medicine》 |2018年第7期|共11页
  • 作者

    Zirui Dong; Huilin Wang; Haixiao Chen; Hui Jiang; Jianying Yuan; Zhenjun Yang; Wen-Jing Wang; Fengping Xu; Xiaosen Guo; Ye Cao; Zhenzhen Zhu; Chunyu Geng; Wan Chee Cheung; Yvonne K Kwok; Huanming Yang; Tak Yeung Leung; Cynthia C Morton; Sau Wai Cheung; Kwong Wai Choy;

  • 作者单位

    Department of Obstetrics &

    Gynaecology The Chinese University of Hong Kong Hong Kong China;

    Department of Obstetrics &

    Gynaecology The Chinese University of Hong Kong Hong Kong China;

    BGI-Shenzhen Shenzhen China;

    BGI-Shenzhen Shenzhen China;

    BGI-Shenzhen Shenzhen China;

    BGI-Shenzhen Shenzhen China;

    BGI-Shenzhen Shenzhen China;

    BGI-Shenzhen Shenzhen China;

    BGI-Shenzhen Shenzhen China;

    Department of Obstetrics &

    Gynaecology The Chinese University of Hong Kong Hong Kong China;

    BGI-Shenzhen Shenzhen China;

    BGI-Shenzhen Shenzhen China;

    Department of Obstetrics &

    Gynaecology The Chinese University of Hong Kong Hong Kong China;

    Department of Obstetrics &

    Gynaecology The Chinese University of Hong Kong Hong Kong China;

    BGI-Shenzhen Shenzhen China;

    Department of Obstetrics &

    Gynaecology The Chinese University of Hong Kong Hong Kong China;

    Department of Obstetrics and Gynecology Brigham and Women's Hospital Boston Massachusetts USA;

    The Chinese University of Hong Kong-Baylor College of Medicine Joint Center For Medical Genetics;

    Department of Obstetrics &

    Gynaecology The Chinese University of Hong Kong Hong Kong China;

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  • 正文语种 eng
  • 中图分类 医学遗传学;
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