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Updated: Jan 6, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

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人口における遺伝的調節変異は,希少疾患におけるトランスクリプトーム解析を伝える

Pejman Mohammadi1,2,3,4, Stephane E Castel5,2, Beryl B Cummings6,7

  • 1New York Genome Center, New York, NY, USA. pejman@scripps.edu tlappalainen@nygenome.org.

Science (New York, N.Y.)
|October 12, 2019
PubMed
まとめ

ANEVAは RNAデータから 遺伝子の投与量の変化を分析し 稀な疾患の診断を 改善しました ANEVA-DOTは病原性変異を正確に検出し,トランスクリプトーム配列を解析することで遺伝疾患の診断に役立ちます.

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