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Updated: Aug 4, 2026

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay
10:57

Visualizing Genetic Variants, Short Targets, and Point Mutations in the Morphological Tissue Context with an RNA In Situ Hybridization Assay

Published on: August 14, 2018

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多omics分析详细介绍了一个亚微观的inv(15)(q14q15) 产生聚变转录和MEIS2和NUSAP1的哈普隆不充分性

Marlene Ek1,2, Malin Kvarnung3,4, Maria Pettersson3,4

  • 1Department of Molecular Medicine and Surgery, Karolinska Institutet, 171 76, Stockholm, Sweden. marlene.ek.2@ki.se.

Scientific reports
|December 5, 2024
PubMed
概括

这项研究在一个患者中发现了 de novo 15 号染色体的偏心逆转,扰乱了 MEIS2 和 NUSAP1. 长读序列测定证实了反转,表明复制性错误和MEIS2随机缺陷是罕见疾病症状的原因.

关键词:
这就是MEIS2的意义.适应式长读序列化基因破坏 基因破坏基因融合 基因融合逆转式的反转方式简读全基因组测序.转录基因组序列的测序

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相关概念视频

DNA Microarrays02:34

DNA Microarrays

Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...