公开(公告)号：US20250084469A1

公开(公告)日：2025-03-13

申请号：US18883708

申请日：2024-09-12

Applicant: GUARDANT HEALTH, INC.

Inventor： Darya CHUDOVA ,  Tingting JIANG ,  Catalin BARBACIORU ,  Marcin Pawel SIKORA

IPC: C12Q1/6851 ,  C12Q1/6855 ,  G16B20/10 ,  G16B20/20 ,  G16B30/10

Abstract: The present invention provides a method for determining a quantitative measure indicative of the number of nucleic acids in a sample that map to a specific genomic region. The method involves: (a) providing a sample containing parent nucleic acids; (b) amplifying these parent nucleic acids to generate progeny nucleic acids; (c) sequencing the progeny nucleic acids to produce sequence reads; (d) grouping the sequence reads into families, where each family corresponds to sequence reads derived from the same parent nucleic acid; and (e) utilizing both the number of families mapping to the genomic region and the family size distribution of these families to calculate a quantitative measure indicative of the number of nucleic acids in the sample that map to the genomic region. This method enhances the accuracy of quantifying nucleic acids within a genomic region, particularly in complex or low-abundance samples.

公开(公告)号：US20240247319A1

公开(公告)日：2024-07-25

申请号：US18500890

申请日：2023-11-02

Applicant: GUARDANT HEALTH, INC.

Inventor： Aliaksandr ARTSIOMENKA ,  Marcin Pawel SIKORA ,  Catalin BARBACIORU ,  Darya CHUDOVA ,  Martina I. LEFTEROVA

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

CPC classification number: C12Q1/6886 ,  G16B20/20 ,  G16B30/10 ,  G16B40/20

Abstract: 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.