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Genetics
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导航 MARRVEL,一种基于 Web 的工具,集成了人类基因组学和模型有机体遗传学信息
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Genetics
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JoVE Journal
Genetics
Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
Please note that all translations are automatically generated.
Click here for the English version.
导航 MARRVEL,一种基于 Web 的工具,集成了人类基因组学和模型有机体遗传学信息
DOI:
10.3791/59542-v
•
09:37 min
•
August 15, 2019
•
Julia Wang
2
,
Zhandong Liu
4
,
Hugo J. Bellen
4,5,6,7
,
Shinya Yamamoto
4,5,6
1
Program in Developmental Biology
,
Baylor College of Medicine
,
2
Medical Scientist Training Program
,
Baylor College of Medicine
,
3
Department of Pediatrics
,
Baylor College of Medicine
,
4
Jan and Dan Duncan Neurological Research Institute
,
Texas Children’s Hospital
,
5
Department of Molecular and Human Genetics
,
Baylor College of Medicine
,
6
Department of Neuroscience
,
Baylor College of Medicine
,
7
Howard Hughes Medical Institute
,
Baylor College of Medicine
Chapters
00:04
Title
00:48
Beginning a Search in MARRVEL Based on Human Genes and Variants
01:47
Obtaining Information about Ortholog Candidate Genes in Model Organism Data in MARRVEL
05:26
Beginning a Search in MARRVEL Based on Model Organism Genes
06:35
Interpreting MARRVEL Human Genetics Outputs for a Gene and Variant Search
07:21
Results: Representative MARRVEL Search Output: TBX2
08:45
Conclusion
Summary
Automatic Translation
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Automatic Translation
在这里,我们提出了一个协议,以有效地访问和分析许多人类和模型生物体数据库。该协议演示了使用 MARRVEL 分析从下一代测序工作中发现的候选致病变异。
Tags
MARRVEL
Web-based Tool
Human Genomics
Model Organism Genetics
Disease Relevance
Rare Genetic Diseases
Model Organism Databases
Diagnosis
Therapeutic Studies
Gene Search
Variant Information
Model Organism Data
Gene Function Table
Ortholog Prediction
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