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Updated: Oct 27, 2025

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ゲルムラインの臨床シーケンシングデータの精度に関する課題

Ryan Poplin1, Justin M Zook2, Mark DePristo3

  • 1Google Inc, Mountain View, California.

JAMA
|July 20, 2021
PubMed
まとめ

No abstract available in PubMed .

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Last Updated: Oct 27, 2025

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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.
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DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
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