相关实验视频

Updated: Jul 5, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

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全基因组测序通过识别致病变体,使遗传性视网膜疾病的新遗传诊断成为可能

Xubing Liu1, Fangyuan Hu2,3,4, Daowei Zhang2,3,4

  • 1CAS Key Laboratory of Computational Biology, Shanghai Institute of Nutrition and Health, University of Chinese Academy of Sciences, Chinese Academy of Sciences, Shanghai, China.

NPJ genomic medicine
|January 20, 2024
PubMed
概括

全基因组测序 (WGS) 在未解决的遗传视网膜疾病 (IRD) 病例中发现了新的结构和内在变异. 这种方法显著提高了IRD的遗传诊断率,揭示了视网膜色素炎的新原因.

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA11:35

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

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