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Updated: Apr 4, 2026

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在患有自闭症谱系障碍的儿童中进行染色体微阵列分析和全外体测序的分子诊断产量

Kristiina Tammimies1, Christian R Marshall2, Susan Walker3

  • 1The Centre for Applied Genomics, Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario, Canada2Center of Neurodevelopmental Disorders (KIND), Pediatric Neuropsychiatry Unit, Department of Women's and Children's Health, K.

JAMA
|September 2, 2015
PubMed
概括

染色体微阵列分析 (CMA) 和全外体测序 (WES) 为自闭症谱系障碍 (ASD) 提供了可比的分子诊断产量. 在具有复杂形态表型的儿童中, 基因检测更有效.

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相关概念视频

DNA Microarrays02:34

DNA Microarrays

Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
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