ACMG

Hellen Lesmann1, Hannah Klinkhammer2, Prof Dr Med Dipl Phys Peter M Krawitz2

  • 1University of Bonn, Medical Faculty & University Hospital Bonn Institute of Human Genetics Venusberg-Campus 1 53127 Bonn Germany.

概括

下一代测序有助于诊断罕见疾病,但基因组数据分析是复杂的. 一个精细的贝叶斯框架使用表型数据和既定的准则来改进变体解释.