公开(公告)号：US12031186B2

公开(公告)日：2024-07-09

申请号：US17809516

申请日：2022-06-28

申请人： GUARDANT HEALTH, INC.

发明人： Jennifer Yen ,  Elena Helman ,  Arielle Yablonovitch

IPC分类号： C12Q1/6886 ,  C12Q1/6869 ,  G16B20/20 ,  G16B30/10 ,  G16B30/20 ,  G16H50/30

CPC分类号： C12Q1/6886 ,  G16B20/20 ,  G16B30/10 ,  G16B30/20 ,  G16H50/30 ,  C12Q1/6869

摘要： Provided herein are methods of generating a homologous recombination repair deficiency (HRD) score, determining a reference HRD score, determining a HRD status of a test subject having one or more cancer types, and/or treating a disease based on HRD status. Additional methods as well as related systems, apparatuses, and computer readable media are also provided.

公开(公告)号：US11118234B2

公开(公告)日：2021-09-14

申请号：US16917582

申请日：2020-06-30

申请人： GUARDANT HEALTH, INC.

发明人： Katie Julia Quinn ,  Elena Helman ,  Darya Chudova

IPC分类号： G16B20/40 ,  G16B20/20 ,  G16B20/10 ,  C12Q1/6886

摘要： Provided herein are methods for detecting tumor mutational burden (TMB) in subjects. In one aspect, the methods include determining observed mutational counts from sequence information obtained from nucleic acids in samples from the subjects and determining a tumor fraction and/or a coverage of the nucleic acids to generate sequencing parameters. The methods also include determining an expected mutational fraction and/or an expected distribution of the expected mutational fraction given the sequencing parameters to generate an expected result, and adjusting the observed mutational count given the expected result to generate an adjusted result, thereby detecting the TMB in the subject. Other aspects are directed to methods of selecting customized therapies for treating cancer in subjects, and methods of treating cancer in subjects. Yet other aspects include related systems and computer readable media used to detect TMB in subjects.