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病気の遺伝性研究が 医療制度を広範囲に活用する
Joshua C Denny1, Jonathan D Mosley1
1Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.
Cell
|June 16, 2018
まとめ
遺伝性研究では 電子医療記録を使って 何百もの特徴を分析できます このアプローチは大きなデータセットを活用して 病気のリスクと変異性に対する遺伝的影響を理解します
科学分野:
- 遺伝学
- 生物医学情報学
- 公衆衛生
背景:
- 遺伝性の研究は,病気のリスクと特徴の変動に対する遺伝的貢献を理解するために不可欠です.
- 伝統的な方法には 規模と範囲の制限があります
- 電子医療記録 (EHR) は 広大で 十分に活用されていないデータ源です
研究 の 目的:
- 遺伝性研究を行うために大規模なEHRデータの有用性を実証する.
- 遺伝子研究のための緊急連絡先の情報採掘の応用を探求する.
- この新しいアプローチの広範な適用性を評価する.
主な方法:
- 電子医療記録から大量のデータセットを活用しました
- 何百もの表型を分析した
- 緊急連絡先情報採掘の調査結果を 既定の基準と比較した.
主要な成果:
- EHRデータを用いて大規模な遺伝性研究を成功裏に実施した.
- 遺伝子洞察のための緊急連絡先情報の採掘の実現性と正確さを実証しました.
- EHRベースのアプローチの広範な有用性と拡張性を示しました.
結論:
- 大規模なEHRデータは,包括的な遺伝性研究のために効果的に活用できます.
- 緊急連絡先の採掘は 遺伝学の研究において 価値ある方法であり 広く適用できるものです
- このアプローチは,健康と病気に対する遺伝的影響の発見の可能性を大幅に高めます.
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