相关实验视频

Updated: Jan 16, 2026

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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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染色体重塑BAF复杂相关神经发育障碍的基因特异性病原性预测器

Joshua Hack1, Mohammad Nazim2

  • 1Genetics and Genomics Department, University of California Los Angeles, Los Angeles, California 90095, USA.

bioRxiv : the preprint server for biology
|September 26, 2025
PubMed
概括

机器学习模型现在可以从不确定的意义 (VUS) 的变异中预测致病性遗传变异. 基因特异性算法提高了诊断罕见神经发育疾病的准确性,帮助遗传咨询师.

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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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相关概念视频

Nucleosome Remodeling02:54

Nucleosome Remodeling

Nucleosomes are the basic units of chromatin compaction. Each nucleosome consists of the DNA bound tightly around a histone core, which makes the DNA inaccessible to DNA binding proteins such as DNA polymerase and RNA polymerase. Hence, the fundamental problem is to ensure access to DNA when appropriate, despite the compact and protective chromatin structure.
Nucleosome remodeling complex
Eukaryotic cells have specialized enzymes called ATP-dependent nucleosome remodeling enzymes. These enzymes...
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