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Updated: Jun 5, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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ヒトTNNT2変種のスケーラブルな尋問を可能にする心臓サルコメア機能ゲノミクスプラットフォームの開発

Anthony M Pettinato1, Feria A Ladha1, David J Mellert2

  • 1University of Connecticut Health Center (A.M.P., F.A.L., R.R., J.T.H.).

Circulation
|October 7, 2020
PubMed
まとめ

病原性TNNT2変異は心臓筋収縮に影響し,高縮性または膨張性心筋病を引き起こす. この研究では,疾患リスクの予測と心不全の理解を改善するために,変異効果を評価する新しい方法が開発されました.

キーワード:
心筋病ゲノム学多能幹細胞サルコメア組織工学トロポニンT

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