光学基因组映射识别了儿童癌症患者潜在的新癌症倾向候选基因中的结构变异

Rabea Wagener1,2, Danielle Brandes1, Marie Jung1

  • 1Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.

PubMed
概括

光学基因组映射 (OGM) 揭示了儿科癌症患者的众多罕见结构变异 (SV),识别了新的潜在癌症倾向基因,并改善了超越整个外体序列 (WES) 的诊断. 这种先进的技术提供了对遗传变化的更全面的了解.

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