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Updated: Jun 28, 2025

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
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Ultra-long Read Sequencing for Whole Genomic DNA Analysis

Published on: March 15, 2019

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在1000个基因组项目中的1,019个样本中进行长读测序和结构变体表征

Siegfried Schloissnig, Samarendra Pani, Bernardo Rodriguez-Martin

    bioRxiv : the preprint server for biology
    |April 25, 2024
    PubMed
    概括

    对1019个人类基因组的长读测序揭示了167,291个结构变异 (SV),显著改善了人类遗传多样性和疾病洞察力. 这种先进的表征为未来的基因组研究提供了宝贵的资源.

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