基因组测序在可治疗遗传疾病早期诊断中的潜在作用。
Potential Role of Genomic Sequencing in the Early Diagnosis of Treatable Genetic Conditions.
作者信息
Zahed Hengameh, Sparks Teresa N, Li Ben, Alsadah Adnan, Shieh Joseph T C
机构信息
Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA.
Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, CA; Department of Obstetrics, Gynecology and Reproductive Medicine, University of California San Francisco, San Francisco, CA.
出版信息
J Pediatr. 2017 Oct;189:222-226.e1. doi: 10.1016/j.jpeds.2017.06.040.
We present cases of 3 children diagnosed with the same genetic condition, Gitelman syndrome, at different stages using various genetic methods: panel testing, targeted single gene sequencing, and exome sequencing. We discuss the advantages and disadvantages of each method and review the potential of genomic sequencing for early disease detection.
我们介绍了3名患有相同遗传疾病——吉特曼综合征的儿童病例，这些病例是在不同阶段通过各种基因检测方法确诊的：基因检测组合、靶向单基因测序和外显子组测序。我们讨论了每种方法的优缺点，并回顾了基因组测序在早期疾病检测方面的潜力。
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