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Updated: Sep 9, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

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バライツァー・ウィンター脳対面症候群の症例は,全エクソーム配列解析によって診断された

Kenichi Suga1, Hiroki Sato2, Masashi Suzue2

  • 1Department of Pediatrics, Tokushima University Hospital, Kuramotocho, Tokushima, Japan. aksuga@icloud.com.

Human genome variation
|September 3, 2025
PubMed
まとめ

ACTB遺伝子 (NM_001101.5:c.209C>T) の新しい変異は,軽度のBaraitser-Winter脳前面症候群と関連しています. この発見は,この稀な遺伝的疾患の 遺伝子型-現象型相関を示唆しています.

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia05:51

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

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Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
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