臨床ゲノム学と研究のためのNCBIとEMBL-EBIの共同トランスクリプトセット
Joannella Morales1, Shashikant Pujar2, Jane E Loveland1
1European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Hinxton, UK.
Nature
|April 7, 2022
まとめ
NCBIとEMBL-EBI (MANE) の協力によるマッチド・アノテーションは,標準化されたヒトの遺伝子とトランスクリプトのアノテーションセットを確立しました. これらのMANEトランスクリプトは,一貫した臨床変異報告とゲノムブラウザの表示を保証します.
科学分野:
- ゲノミクス
- バイオ情報学
- 臨床遺伝学
背景:
- ゲノムアノテーションは臨床的に重要な変異を理解するために重要です.
- 標準化された臨床報告とブラウザの表示がなく,一貫した解釈が困難です.
- Ensembl/GENCODEとRefSeqのデータベースは,これらの課題に取り組むために協力しています.
研究 の 目的:
- NCBIとEMBL-EBI (MANE) のトランスクリプトセットのマッチング・アノテーションを記述する.
- 変種報告とゲノムブラウザの表示のための普遍的な基準を確立する.
- 遺伝子変異の一貫性を改善し,臨床解釈を簡素化する.
主な方法:
- MANEのコラボレーションは,Ensembl/GENCODEとRefSeqのヒト遺伝子とトランスクリプトの注釈を融合させた.
- 高値のトランスクリプトと対応するタンパク質のセットを定義した.
- MANE SelectとMANE Plusのクリニカル・トランスクリプト・セットを作成しました.
主要な成果:
- 解放されたMANEは,ACMG二次発見遺伝子を含む,ヒトのタンパク質をコードする遺伝子の97%のセレクトトランスクリプトである.
- MANEのトランスクリプトは,Ensembl/GENCODEとRefSeqのエクソニック配列の正確な一致を保証する.
- MANEのトランスクリプトは,主要なゲノムブラウザとキーリソースでアクセスできます.
結論:
- MANEトランスクリプトセットは,変種報告とゲノムブラウザの表示のための普遍的な標準を提供します.
- 広く採用されれば,報告の一貫性とデータ交換が向上します.
- MANEは遺伝子変異の簡潔な臨床解釈を容易にする.
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