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Updated: Sep 2, 2025

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

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ヒトゲノムのクロス・ディソード・センシビリティ・マップ

Ryan L Collins1, Joseph T Glessner2, Eleonora Porcu3

  • 1Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA; Division of Medical Sciences and Department of Medicine, Harvard Medical School, Boston, MA 02115, USA.

Cell
|August 2, 2022
PubMed
まとめ

研究者は,約100万人の稀なコピー数変異 (rCNVs) を分析することによって,全ゲノムにわたる用量感受性を定量化しました. この研究により,何千ものハプロインセンシティブとトリプルセンシティブの遺伝子が特定され,病気の研究と臨床遺伝学が進歩しました.

キーワード:
コピーの数による変化発達障害病気関連投与感度ゲノム学ハプロイン不足統計遺伝学構造的な変化三重感受性

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Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.22:27

Hi-C: A Method to Study the Three-dimensional Architecture of Genomes.

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