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Updated: Jul 19, 2025

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
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Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

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使用超低覆盖率的全基因组测序来识别胚胎无体积的风险基因

Siqi Sun, Mansour Aboelenain, Daniel Ariad

    medRxiv : the preprint server for health sciences
    |August 7, 2023
    PubMed
    概括

    研究人员确定了一种与形积分相关的基因,导致流产和试管婴儿失败. 这一发现有助于更好地理解卵子无积体症的遗传因素,并为遗传关联研究提供了一种新方法.

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    Semiconductor Sequencing for Preimplantation Genetic Testing for Aneuploidy

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    A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations08:22

    A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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    相关概念视频

    Nondisjunction01:21

    Nondisjunction

    Nondisjunction is the failure of homologous chromosomes or sister chromatids to separate correctly and move to the opposite poles of the cells. This produces daughter cells with abnormal chromosome numbers.  Nondisjunction is common during anaphase I or anaphase II of meiosis.  Mutations in synaptonemal complex proteins that attach homologous chromosomes increase the chances of nondisjunction in anaphase I of meiosis I. In contrast, mutations in topoisomerases and condensins that hold...
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