公开(公告)号：US20240420800A1

公开(公告)日：2024-12-19

申请号：US18743839

申请日：2024-06-14

Applicant: GUARDANT HEALTH, INC.

Inventor： Denis TOLKUNOV ,  Catalin BARBACIORU

IPC: G16B20/20 ,  G16H50/50

Abstract: Described herein are method for determining homologous recombination repair deficiency (HRD) status in a subject, including use of samples containing cell free nucleic acid such as cell free DNA (cfDNA). As such nucleic acid in samples such as blood are small quantities, described herein are techniques to analyze signatures present in cell free nucleic acids to provide metrics related to the presence or absence of a homologous recombination repair deficiency in a given subject.

公开(公告)号：US20250069687A1

公开(公告)日：2025-02-27

申请号：US18439682

申请日：2024-02-12

Applicant: GUARDANT HEALTH, INC.

Inventor： Andrew M. GROSS ,  Hao WANG ,  Denis TOLKUNOV ,  Colby JENKINS ,  Sara WIENKE ,  Catalin BARBACIORU ,  Han-Yu CHUANG

IPC: G16B20/10 ,  G16B40/20

Abstract: Described herein are methods and compositions related to whole gene duplication (WGD). Methods are described for detecting and determining the presence of WGD in a sample, including cell free nucleic acids derived from a subject, such as a liquid sample (e.g., blood, plasma), as well as chromosomal instability and genomic alterations. In various embodiments, the aforementioned methods are used in diagnosis, prognosis and treatment. In other embodiments, processing of samples characterized by WGD is described to confer increased accuracy and precision of detection.