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Updated: Sep 28, 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

Published on: April 4, 2018

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完全な参照ゲノムにより,ヒトの遺伝的多様性の分析が改善される

Sergey Aganezov1, Stephanie M Yan2, Daniela C Soto3

  • 1Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA.

Science (New York, N.Y.)
|March 31, 2022
PubMed
まとめ

新しいテロメア対テロメアCHM13ゲノム参照は,配列を追加し,エラーを修正し,変異発見を向上させることで,ヒト遺伝分析を大幅に改善します. この高度な参考文献は,ヒト遺伝学の研究において,GRCh38に取って代わることになるでしょう.

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