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Updated: Jun 3, 2026

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
05:51

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia

Published on: June 15, 2011

エクソームシーケンシングにより,希少疾患の解読が可能になりました

Amy Maxmen

    Cell
    |March 8, 2011
    PubMed
    まとめ

    米国国立衛生研究所 (NIH) の未診断疾患プログラム (Undiagnosed Diseases Program) は,全エクソーム配列解析を用いて,39の希少疾患の診断に成功しました. このイニシアチブは,パーソナルゲノミクスと,複雑なゲノム情報のためのデータ管理技術を推進しています.

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