公开(公告)号：US11773451B2

公开(公告)日：2023-10-03

申请号：US16907034

申请日：2020-06-19

申请人： GUARDANT HEALTH, INC.

发明人： Aliaksandr Artsiomenka ,  Marcin Sikora ,  Catalin Barbacioru ,  Darya Chudova ,  Martina I. Lefterova

IPC分类号： C12Q1/6886 ,  G16B30/10 ,  G16B20/20 ,  G16B40/20

CPC分类号： C12Q1/6886 ,  G16B20/20 ,  G16B30/10 ,  G16B40/20

摘要： Provided herein are methods for determining the microsatellite instability status of samples. In one aspect, the methods include quantifying a number of different repeat lengths present at each of a plurality of microsatellite loci from sequence information to generate a site score for each of the plurality of the microsatellite loci. The methods also include comparing the site score of a given microsatellite locus to a site specific trained threshold for the given microsatellite locus for each of the plurality of the microsatellite loci and calling the given microsatellite locus as being unstable when the site score of the given microsatellite locus exceeds the site specific trained threshold for the given microsatellite locus to generate a microsatellite instability score, which includes a number of unstable microsatellite loci from the plurality of the microsatellite loci.