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Updated: Sep 10, 2025

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使用ScatTR从短读数中估计长串重复扩展的大小

Rashid Al-Abri1, Gamze Gursoy2

  • 1New York Genome Center, Columbia University.

Genome research
|August 21, 2025
PubMed
概括

使用短读DNA测序,ScatTR准确地测量了大型串联重复 (TR) 扩张. 这种新的计算方法改善了与众多遗传疾病相关的TR变异的检测.

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Rapid Amplification of cDNA Ends, or RACE, is one of the most effective methods to obtain a full-length cDNA from an mRNA sequence between a known internal region to the unknown sequence at the 5’ or 3’ end. The unknown region is cloned in the cDNA by a gene-specific primer that binds the known end, and a hybrid primer that attaches a predefined anchor sequence to the unknown end of the cDNA. The sequence in between is amplified by PCR with an anchor primer and a gene-specific...
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