相关实验视频

Updated: Jun 29, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

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

Published on: August 21, 2016

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用长时间读取的全基因组测序和特征相关的多基因分数映射罕见疾病基因的结构变异

Cas LeMaster1, Carl Schwendinger-Schreck1, Bing Ge2

  • 1Genomic Medicine Center, Children's Mercy Research Institute and Children's Mercy Kansas City, Kansas City, MO, USA.

medRxiv : the preprint server for health sciences
|April 2, 2024
PubMed
概括

将罕见结构变异 (rSV) 与多基因分数 (PGS) 整合起来,有助于优先考虑罕见疾病的候选基因. 这种方法识别了与疾病相关的基因组区域,有助于对复杂遗传疾病中rSV影响的功能验证.

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