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Updated: Jun 11, 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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来自1000个基因组项目的样品的高覆盖度纳米孔测序,以建立人类遗传变异的全面目录

Jonas A Gustafson1,2, Sophia B Gibson1,3, Nikhita Damaraju1,4

  • 1Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington 98195, USA.

Genome research
|October 2, 2024
PubMed
概括

长读数测序 (LRS) 提供了一种强大的新方法来分析人类遗传变异,识别短读数方法遗漏的结构变异. 这项研究提供了有价值的LRS数据,以改善临床遗传测试和疾病诊断.

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