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Updated: Sep 9, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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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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代謝遺伝疾患の臨床診断のための遺伝子優先順位の最適化

Beatriz Helena Dantas Rodrigues de Albuquerque1, Daniel Carlos Ferreira Lanza1

  • 1Laboratory of Applied Molecular Biology (LAPLIC), Department of Biochemistry, Federal University of Rio Grande do Norte, Natal, Rio Grande do Norte, Brazil.

PloS one
|August 29, 2025
PubMed
まとめ

研究者は遺伝代謝障害 (IMD) の遺伝子フェノタイプリンクをマッピングし,診断パネルを作成しました. これらのパネルは,代謝疾患の診断の正確性と公平性を向上させ,検査不足の遺伝子に対処し,効率的なスクリーニングを優先します.

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