甲基因固定组织的高分辨率基因定型准确估计了人类疾病中的多基因风险得分

Omar Youssef1, Anu Loukola2, Yossra H S Zidi-Mouaffak3

  • 1Department of Pathology, University of Helsinki, Helsinki, Finland; Clinical and Chemical Pathology Department, National Cancer Institute, Cairo University, Cairo, Egypt; Research Program in Systems Oncology, Faculty of Medicine, University of Helsinki, Helsinki, Finland.

概括

甲固定嵌正常组织 (FFPE-NT) DNA可以准确地进行基因型鉴定,从而能够对存档样本进行基因组分析. 这验证了FFPE-NT DNA用于识别易患疾病的变体和计算多基因风险得分,可与血液DNA进行比较.