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Updated: Sep 10, 2025

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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全基因组测序揭示了导致牛皮的罕见和结构变异,并将CERCAM确定为风险基因

Kyuto Sonehara1, Rei Watanabe2, Yutaka Matsumura3

  • 1Department of Genome Informatics, Graduate School of Medicine, the University of Tokyo, Tokyo, Japan; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan; Laboratory for Systems Genetics, RIKEN Center for Integrative Medical Sciences, Yokohama, Japan.

Cell genomics
|August 23, 2025
PubMed
概括

这项研究通过分析日本人口中的罕见和结构变异,揭示了导致牛皮病 (PsV) 的新遗传因素. 这些发现强调IFIH1和CERCAM是关键的易感基因,进步了我们对PsV遗传学的理解.

关键词:
基因分析全基因组关联研究淘汰赛小鼠模型牛皮一般病罕见的变种一个细胞RNA-seq空间转录组分析结构变体全基因组测序

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Published on: June 15, 2011

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High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture 4C-seq09:06

High-throughput Identification of Gene Regulatory Sequences Using Next-generation Sequencing of Circular Chromosome Conformation Capture 4C-seq

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