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Updated: Jul 16, 2025

Detection of Copy Number Alterations Using Single Cell Sequencing
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组合序列和副本数分析可以改善肢体腰带和其他肌肉病的诊断

Babi R R Nallamilli1, Yinghong Pan1, Lisa Sniderman King2

  • 1Revvity Omics, Pittsburgh, Pennsylvania, USA.

Annals of clinical and translational neurology
|September 9, 2023
PubMed
概括

一个新的下一代测序面板有助于诊断四肢腰带肌肉缩症 (LGMD) 和相关肌肉病变. 这种综合性测试可以识别序列和副本数变异,改善诊断产量和了解疾病患病率.

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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.
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