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Updated: May 25, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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一个前性试验,比较可编程的向长读序列和短读基因组序列,用于大脑小性衰竭的遗传诊断

Haloom Rafehi1,2, Liam G Fearnley1,2, Justin Read3,4

  • 1Population Health and Immunity Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia.

Genome research
|February 27, 2025
PubMed
概括

短读基因组测序和长读测序显示出诊断小脑动症 (CA) 的前景. 这两种方法都确定了重复扩张,但短读序列目前为这些渐进性失调障碍提供了更广泛的诊断实用性.

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相关概念视频

Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
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