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Updated: Jun 13, 2025

Comparative Lesions Analysis Through a Targeted Sequencing Approach
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长期读取的DNA和cDNA测序识别了瘤抑制基因的癌症倾向性深层内基因变异

Suleyman Gulsuner1, Amal AbuRayyan1, Jessica B Mandell1

  • 1Departments of Medicine (Medical Genetics) and Genome Sciences, University of Washington, Seattle, Washington 98195-7720, USA.

Genome research
|September 13, 2024
PubMed
概括

深层内在变异,通常错过了标准遗传检测,可以导致罕见疾病. 长读测序确定了癌症倾向基因中的致病性深内基因变异,揭示了新的诊断方法.

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