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Comparing Copy Number Variations and SNPs02:26

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Array Comparative Genomic Hybridization Array CGH for Detection of Genomic Copy Number Variants
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由连续儿科患者进行的染色体微阵列分析的不确定意义的副本数量变异:按照当前的指导方针进行重新评估和通过基因组测序进行重新分析

Wenjiao Li1, Xiaolei Xie1,2, Hongyan Chai1

  • 1Department of Genetics, Yale University School of Medicine, New Haven, CT 06510, USA.

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概括

不确定意义的复制数变体 (CNVus) 的定期重新评估和全基因组测序 (WGS) 的重新分析可以提高诊断产量. 这项研究强调了重新分类CNVus的临床影响,支持标准化实验室实践以改善患者的结果.

关键词:
染色体微阵列分析 (CMA)不确定意义的副本数变体 (CNVus)重新分析进行重新分类重新评估全基因组测序 (WGS)

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科学领域:

  • 遗传学和基因组学
  • 临床细胞遗传学
  • 诊断技术

背景情况:

  • 不确定意义的副本数变异 (CNVus) 在临床遗传学中构成诊断挑战.
  • 染色体微阵列分析 (CMA) 是检测CNVus的主要工具,需要重新评估策略.

研究的目的:

  • 根据目前的指导方针,系统地重新评估报告的CNVus.
  • 通过重新分析,包括全基因组测序 (WGS),评估重新分类CNVus的诊断价值和临床影响.
  • 评估定期重新评估和WGS重新分析CNVus的有用性.

主要方法:

  • 在CMA对13年的5277例儿科病例进行了回顾.
  • 根据ACMG/ClinGen指南重新评估所有报告的CNVus.
  • 通过WGS对选定的CNVus进行重新分析以确认重新分类.

主要成果:

  • 在报告的567例CNVus中,480例 (9. 1%),5. 6%被重新分类.
  • 4 CNV (0. 8%) 被重新分类为致病性/可能致病性 (pCNVs/ lpCNVs).
  • 23 CNV (4. 8%) 被重新分类为良性/可能良性 (bCNVs/ lbCNVs).
  • 在精选的案例中,WGS精确了断点,并排除了其他遗传变异.

结论:

  • 定期重新评估 (每3至5年) 的CNVus具有诊断价值.
  • 通过WGS进行重新分析有助于准确地重新分类CNVus.
  • 这些发现支持了标准化的实验室再评估和再分析方案.