DiscovEHR研究から50726の全エクソーム配列における機能的変異の分布と臨床的影響
Frederick E Dewey1, Michael F Murray2, John D Overton3
1Regeneron Genetics Center, Tarrytown, NY 10591, USA. djcarey@geisinger.edu frederick.dewey@regeneron.com.
Science (New York, N.Y.)
|December 24, 2016
まとめ
DiscovEHR研究は,5万人を超える参加者の遺伝データを電子医療記録 (EHR) にリンクし,健康特性と関連した希少な遺伝子変異を発見し,精密医療のための実行可能な遺伝情報を特定しました.
科学分野:
- ゲノミクス
- 精密医療
- バイオ情報学
背景:
- DiscovEHRのコラボレーションは,ハイ・スループット・シーケンシングとゲインジャー・ヘルス・システムの電子医療記録 (EHR) を統合しています.
- このイニシアチブは,医学研究のための大規模な遺伝子と臨床データを活用することを目的としています.
研究 の 目的:
- 大規模で統合されたデータセットを使用して,希少な遺伝子変異と臨床フェノタイプとの関連を特定する.
- ゲノムによる治療の発見と 精密医療の可能性を 探求すること
主な方法:
- DiscovEHR研究に参加した50,726人の成人の全エクソムのシーケンシング.
- 希少な単核酸変種と挿入/削除イベントの特定と分析
- 遺伝子データとEHRから派生した臨床現象の関連付け
主要な成果:
- 約420万の希少変種が発見され,約17万6千の変種が遺伝子機能の喪失を引き起こすと予測されています.
- 脂質低下遺伝子を含め,治療目標をサポートする臨床関連性の特定.
- 脂質と血液レベルの特徴に関連した,以前未知の希少アレルの検出
- ヒトの3.5%が 臨床的に有効な76の遺伝子の 有害な変異を携えていることを発見しました
結論:
- DiscovEHRのデータセットは 精密医療と新しい治療法の発見に 価値あるリソースとして機能しています
- この研究は,大規模なゲノムデータを 臨床情報と統合することで,医療の進歩を図る力を強調しています.
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