公开(公告)号：EP3215633A4

公开(公告)日：2018-04-11

申请号：EP15856657

申请日：2015-11-04

申请人： METABOLON INC

发明人： LONERGAN SHAUN ,  RYALS JOHN A ,  MILBURN MICHAEL V ,  KENNEDY ADAM ,  GUO LINING ,  LAWTON KAY A

IPC分类号： C12Q1/06 ,  G01N31/00 ,  G01N33/48

CPC分类号： G01N33/50 ,  G01N2570/00 ,  G06F19/18

摘要： Methods using a combination of metabolomics and computer technology to determine sequence variants with potential negative or detrimental effects and enable the classification of a variant with an unknown or uncertain clinical significance from VUS status to benign, pathogenic or advantageous are described. For example, methods of using metabolomics to expedite personalized medicine based on genomic sequence analysis are described. Using metabolic profiles to determine (or aid in determining) the significance of genetic variants and enable the identification of diagnostic variants (those variants having a detrimental health affect) for use in personalized medicine is described. Further, using metabolic profiles to determine the presence of advantageous variants that may have a positive effect on patient health is also described.