17,795 人のゲノムにおける構造的変化のマッピングと特徴付け
Haley J Abel1,2, David E Larson1,2, Allison A Regier1,3
1McDonnell Genome Institute, Washington University School of Medicine, St Louis, MO, USA.
Nature
|May 28, 2020
まとめ
研究者らは 約1万8千のヒトゲノムに 構造的変異をマッピングし この種の最大の資源を生み出しました この研究は,構造変異がヒトの遺伝学と病気,特に非コーディングの消去に重大な影響を及ぼすことを明らかにしています.
科学分野:
- ゲノミクス
- 人間 の 遺伝子
- バイオ情報学
背景:
- 全ゲノムシーケンシングは全ての遺伝的変異を特定することを目的としていますが,構造変異 (SV) のツールは,より小さな変異のツールの遅れがあります.
- 構造変異は,単核酸変異とインデルとは異なり,全面的に検出および特徴づけることが困難です.
- ヒトの遺伝的多様性や疾患関連性について 完全な認識を得るために SVsを理解することは極めて重要です
研究 の 目的:
- 深く配列化されたヒトゲノムの大群の構造変異をマッピングし,特徴づけること.
- ゲノム全体の 配列決定を基にした 構造変異の資源を最大限に 創り出すこと
- ヒトゲノムにおける構造変異の頻度,影響,影響を評価する.
主な方法:
- 17,795のヒトゲノムを分析するために 拡張可能な計算パイプラインを利用しました
- 削除,重複,逆転,転位を含む様々なタイプの構造変数をマッピングし,特徴づけました.
- 特定された構造変異の公開されたサイト頻度データ.
主要な成果:
- 158,991の超希少SVを含む,最大規模の全ゲノム配列化ベースの構造変異資源を確立しました.
- 遺伝子を変化させる 稀なSVの平均は2.9個で
- SVはゲノム全体の17.2%を占めると推定され,主に非コーディングの削除から重大な有害な効果が予測されています.
結論:
- 構造的変異は,機能喪失アレルに匹敵する,重要な機能的影響を持つ稀な遺伝的変異の重要な源である.
- 開発されたリソースと発見は,ヒト遺伝学の研究における構造変異の分析と解釈に役立ちます.
- 遺伝病とヒトの進化を理解するために ゲノム全体の配列決定の時代に SVsに関するさらなる研究が不可欠です
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