関連する実験動画

Updated: Sep 9, 2025

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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アラブ人集団における希少疾患の原因となる病原性多様性:スクリーニングプログラムへの影響

Ruchi Jain1, Sami Bizzari2, Sathishkumar Ramaswamy1

  • 1Dubai Health Genomic Medicine Center, Dubai Health, Dubai, United Arab Emirates.

Genetics in medicine open
|September 2, 2025
PubMed
まとめ

アラブ人の稀な病気の原因となる 遺伝的変異はあまり研究されていません この研究は,この集団における後退性疾患のスクリーニングを改善するために,重要な遺伝的変異体とキャリア率を特定します.

キーワード:
血縁関係エクソームシーケンシング遺伝的変異中東珍しい遺伝疾患

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