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ヒトゲノムシーケンシングの時代におけるゲノム解析
Tuuli Lappalainen1, Alexandra J Scott2, Margot Brandt1
1New York Genome Center, New York, NY, USA; Department of Systems Biology, Columbia University, New York, NY, USA.
Cell
|March 23, 2019
まとめ
安価なゲノムシーケンシングは 人間の遺伝学の研究を前進させています しかし,この膨大な量の遺伝データを分析し,解釈することは 科学者にとって大きな課題です.
科学分野:
- 人間 の 遺伝子
- ゲノミクス
- バイオ情報学
背景:
- 安価なゲノムシーケンシング技術により 大規模なヒト遺伝学研究が可能になっています
- 数千から数百万のヒトゲノムが 世界中で 様々な研究や臨床用途で 配列化されています
- ゲノムデータの生成は ルーティンになっていますが 分析と解釈は 重要な課題となっています
研究 の 目的:
- 遺伝子変異の発見,ゲノタイプ化,機能的解釈に関する現在の技術を見直す.
- ゲノム解析と解釈の将来の進歩について議論する.
- 共通とまれなヒト疾患の研究への影響を強調する.
主な方法:
- 遺伝子変異の発見と遺伝子型決定のための現在の技術のレビュー.
- 変異体の機能的効果を予測し測定するための全ゲノム機能的ゲノムアプローチの検討.
- 全ゲノム配列解析で特定された生殖系変異に注目する.
主要な成果:
- ゲノムシーケンシングのデータ生成は 日常的なものになっています
- ゲノム分析と解釈は多くの制限と警告に直面しています.
- 病気の研究のための遺伝子変異の解釈には進歩が必要である.
結論:
- 配列解析の進歩にも関わらず,人間遺伝学研究の全力を実現するために,堅実なゲノム分析と解釈は不可欠です.
- 将来の研究は,遺伝子変異の機能的解釈の改善に重点を置くべきである.
- 改善された解釈は ヒトの一般的な病気と 珍しい病気の両方についての理解を深めるでしょう
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