関連する実験動画

Updated: Jun 29, 2025

Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion
05:22

Author Spotlight: Characterizing DNA Replication of Pathogenic Repeats to Uncover Mechanisms of Replication Fork Stalling and Expansion

Published on: September 13, 2024

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338,963人の全ゲノムにわたるタンデム・リピート・エクスパンション

Ya Cui1, Wenbin Ye1, Jason Sheng Li1

  • 1Division of Computational Biomedicine, Department of Biological Chemistry, School of Medicine, University of California, Irvine, Irvine, CA 92697, USA.

Cell
|April 6, 2024
PubMed
まとめ

TR-gnomADは,病気に関連するタンデムリピート (TR) に焦点を当てた,ヒトの遺伝子変異のための新しいリソースです. これは,多種多様な祖先における良性型と病原性型の TR 拡大を区別するのに役立ちます.

キーワード:
GWAS についてTR-gnomAD について祖先について拡大ゲノムアグリゲーション人間遺伝学遺伝性がない珍しい病気タンデムで繰り返す全ゲノムシーケンシング

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