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Updated: May 2, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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全ゲノム配列決定の臨床的解釈と影響

Frederick E Dewey1, Megan E Grove1, Cuiping Pan2

  • 1Stanford Center for Inherited Cardiovascular Disease, Stanford, California2Stanford Cardiovascular Institute, Stanford, California3Division of Cardiovascular Medicine, Stanford University, Stanford, California4Stanford Center for Genomics and Personalized.

JAMA
|March 13, 2014
PubMed
まとめ

全ゲノムシーケンシング (WGS) は,疾患遺伝子の不完全なカバーと低変異検出再現性を示し,臨床的有用性に影響を与えています. WGSは実行可能な遺伝的変異を見つけることができるが,これらの制限は,医学での使用について慎重に検討する必要があります.

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