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Updated: May 1, 2026

Nuclei Isolation from Fresh Frozen Brain Tumors for Single-Nucleus RNA-seq and ATAC-seq
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利用可解释的深度学习方法来阐明亨廷顿病的生物学基础,使用单细胞RNA测序数据来阐明亨廷顿病的生物学基础

Shichen Gao1,2, Yadong Wang1,2, Jiajia Wang2

  • 1School of Life Sciences, Anhui University, Hefei, 230601, China.

BMC genomics
|October 4, 2024
PubMed
概括

这项研究使用单细胞RNA测序和深度学习来在细胞水平上分析亨廷顿病 (HD). 该模型确定了参与HD的关键基因,为疾病机制提供了新的见解.

关键词:
深度残留模型深度残留模型亨廷顿病是亨廷顿氏病的一种疾病.一个单细胞RNA-seqq.揭示了潜在的关键基因

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Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show...
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