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Updated: Mar 19, 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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プロテオーム全体のスケールでの遺伝的変異の影響を定義する

Joel M Chick1, Steven C Munger2, Petr Simecek2

  • 1Harvard Medical School, Boston, Massachusetts 02115, USA.

Nature
|June 17, 2016
PubMed
まとめ

遺伝的変異は遺伝子発現に影響を与える遺伝的変異によってタンパク質レベルに大きな影響を与える. この研究は,多数のタンパク質定量特征ロシ (pQTL) を特定し,プロテオームの多様性に影響する複雑な規制ネットワークを明らかにした.

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A Fast and Quantitative Method for Post-translational Modification and Variant Enabled Mapping of Peptides to Genomes

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