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Updated: Jul 13, 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

Published on: December 1, 2017

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针对性下一代测序在患有发育性脑病变的儿科患者中的重要性

Savaş Bariş1, Serkan Kırık2, Özgür Balasar3

  • 1Aydın Obstetrics and Gynecology Hospital, Genetic Diseases Diagnosis Center - Aydın, Turkiye.

Revista da Associacao Medica Brasileira (1992)
|October 11, 2023
PubMed
概括

基因测试在患有耐火性和全球发育迟缓的儿童中发现了各种突变. 了解遗传原因对于诊断,咨询和潜在的未来治疗至关重要.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease09:34

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

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Author Spotlight: Advancing Pediatric Epilepsy Surgery in Children Through Novel Biomarkers and Enhanced Localization

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相关概念视频

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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