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Updated: Jul 4, 2025

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

Published on: December 1, 2017

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外体序列测序改善了儿科无法解释的神经发育障碍的分子诊断

Marketa Wayhelova1,2, Vladimira Vallova3,4, Petr Broz3,5

  • 1Department of Experimental Biology, Faculty of Science, Masaryk University, Brno, Czech Republic. marketa.wayhelova@mail.muni.cz.

Orphanet journal of rare diseases
|February 6, 2024
PubMed
概括

在患有神经发育障碍 (NDD) 的家庭中,外因组测序 (ES) 实现了48.9%的诊断收益率. 基于Trio的ES是一种可靠的第一级遗传测试,用于诊断儿童的NDD.

关键词:
副本数量变化的变化外体序列排序是如何进行的神经发育障碍 神经发育障碍序列变体的变体

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