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Updated: Jan 21, 2026

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
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ゲノムシーケンシングは,重度の知的障害の主な原因を特定しています

Christian Gilissen1, Jayne Y Hehir-Kwa1, Djie Tjwan Thung2

  • 11] Department of Human Genetics, Radboud Institute for Molecular Life Sciences and Donders Centre for Neuroscience, Radboud University Medical Center, Geert Grooteplein 10, 6525 GA Nijmegen, the Netherlands [2].

Nature
|June 5, 2014
PubMed
まとめ

全ゲノム配列解析により,重度の知的障害 (ID) の症例において, signicant de novo single-nucleotide variations (SNVs) と copy number variations (CNVs) が特定されました. このアプローチは,重度のID患者の大部分の患者にとって包括的な遺伝子診断を提供します.

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