公开(公告)号：US20240209431A1

公开(公告)日：2024-06-27

申请号：US18317550

申请日：2023-05-15

Applicant: GUARDANT HEALTH, INC.

Inventor： AmirAli TALASAZ ,  Helmy ELTOUKHY ,  Stefanie Ann Ward MORTIMER

IPC: C12Q1/6869 ,  C12Q1/6886 ,  G16B15/00

CPC classification number: C12Q1/6869 ,  C12Q1/6886 ,  C12Q2535/122 ,  C12Q2600/158 ,  G16B15/00

Abstract: Disclosed herein in are methods and systems for determining genetic variants (e.g., copy number variation) in a polynucleotide sample. A method for determining copy number variations includes tagging double-stranded polynucleotides with duplex tags, sequencing polynucleotides from the sample and estimating total number of polynucleotides mapping to selected genetic loci. The estimate of total number of polynucleotides can involve estimating the number of double-stranded polynucleotides in the original sample for which no sequence reads are generated. This number can be generated using the number of polynucleotides for which reads for both complementary strands are detected and reads for which only one of the two complementary strands is detected.

公开(公告)号：US20240141432A9

公开(公告)日：2024-05-02

申请号：US17699968

申请日：2022-03-21

Applicant: GUARDANT HEALTH, INC.

Inventor： Helmy ELTOUKHY ,  AmirAli TALASAZ ,  Bahram Ghaffarzadeh KERMANI ,  Nnamdi IHUEGBU

IPC: C12Q1/6886 ,  C12Q1/6827 ,  C12Q1/6869 ,  G16B30/00

CPC classification number: C12Q1/6886 ,  C12Q1/6827 ,  C12Q1/6869 ,  G16B30/00 ,  C12Q2600/118 ,  C12Q2600/156

Abstract: This disclosure provides, among other things, methods for generating and applying therapeutic interventions. The methods involve, for example, (a) sequencing polynucleotides from cancer cells from a subject; (b) identifying and quantifying somatic mutations in the polynucleotides; (c) developing a profile of tumor heterogeneity in the subject indicating the presence and relative quantity of a plurality of the somatic mutations in the polynucleotides, wherein different relative quantities indicates tumor heterogeneity; and (d) determining a therapeutic intervention for a cancer exhibiting the tumor heterogeneity, wherein the therapeutic intervention is effective against a cancer having the profile of tumor heterogeneity determined.

公开(公告)号：US20240132950A1

公开(公告)日：2024-04-25

申请号：US18535485

申请日：2023-12-11

Applicant: GUARDANT HEALTH, INC.

Inventor： AmirAli TALASAZ ,  Helmy ELTOUKHY ,  Stefanie Ann Ward MORTIMER

IPC: C12Q1/6869 ,  C12Q1/6886

CPC classification number: C12Q1/6869 ,  C12Q1/6886 ,  G16B15/00

Abstract: Disclosed herein in are methods and systems for determining genetic variants (e.g., copy number variation) in a polynucleotide sample. A method for determining copy number variations includes tagging double-stranded polynucleotides with duplex tags, sequencing polynucleotides from the sample and estimating total number of polynucleotides mapping to selected genetic loci. The estimate of total number of polynucleotides can involve estimating the number of double-stranded polynucleotides in the original sample for which no sequence reads are generated. This number can be generated using the number of polynucleotides for which reads for both complementary strands are detected and reads for which only one of the two complementary strands is detected.

公开(公告)号：US20240018582A1

公开(公告)日：2024-01-18

申请号：US18316870

申请日：2023-05-12

Applicant: GUARDANT HEALTH, INC.

Inventor： AmirAli TALASAZ ,  Helmy ELTOUKHY ,  Stefanie Ann Ward MORTIMER

IPC: C12Q1/6886 ,  C12N15/10 ,  A61K31/506

CPC classification number: C12Q1/6886 ,  C12N15/1065 ,  A61K31/506 ,  C12Q2600/156

Abstract: Disclosed herein in are methods and systems for determining genetic variants (e.g., copy number variation) in a polynucleotide sample. A method for determining copy number variations includes tagging double-stranded polynucleotides with duplex tags, sequencing polynucleotides from the sample and estimating total number of polynucleotides mapping to selected genetic loci. The estimate of total number of polynucleotides can involve estimating the number of double-stranded polynucleotides in the original sample for which no sequence reads are generated. This number can be generated using the number of polynucleotides for which reads for both complementary strands are detected and reads for which only one of the two complementary strands is detected.

公开(公告)号：US20220389489A1

公开(公告)日：2022-12-08

申请号：US17701165

申请日：2022-03-22

Applicant: GUARDANT HEALTH, INC.

Inventor： AmirAli TALASAZ ,  Stefanie Ann Ward MORTIMER

IPC: C12Q1/6827 ,  C12Q1/6806 ,  G16B30/00

Abstract: The present disclosure provides a system and method for the detection of rare mutations and copy number variations in cell free polynucleotides. Generally, the systems and methods comprise sample preparation, or the extraction and isolation of cell free polynucleotide sequences from a bodily fluid; subsequent sequencing of cell free polynucleotides by techniques known in the art; and application of bioinformatics tools to detect rare mutations and copy number variations as compared to a reference. The systems and methods also may contain a database or collection of different rare mutations or copy number variation profiles of different diseases, to be used as additional references in aiding detection of rare mutations, copy number variation profiling or general genetic profiling of a disease.

公开(公告)号：US20220325340A1

公开(公告)日：2022-10-13

申请号：US17809544

申请日：2022-06-28

Applicant: GUARDANT HEALTH, INC.

Inventor： AmirAli TALASAZ ,  Helmy ELTOUKHY ,  Stefanie Ann Ward MORTIMER

IPC: C12Q1/6869 ,  C12Q1/6886

Abstract: Disclosed herein in are methods and systems for determining genetic variants (e.g., copy number variation) in a polynucleotide sample. A method for determining copy number variations includes tagging double-stranded polynucleotides with duplex tags, sequencing polynucleotides from the sample and estimating total number of polynucleotides mapping to selected genetic loci. The estimate of total number of polynucleotides can involve estimating the number of double-stranded polynucleotides in the original sample for which no sequence reads are generated. This number can be generated using the number of polynucleotides for which reads for both complementary strands are detected and reads for which only one of the two complementary strands is detected.

公开(公告)号：US20220213562A1

公开(公告)日：2022-07-07

申请号：US17699968

申请日：2022-03-21

Applicant: GUARDANT HEALTH, INC.

Inventor： Helmy ELTOUKHY ,  AmirAli TALASAZ ,  Bahram Ghaffarzadeh KERMANI ,  Nnamdi IHUEGBU

IPC: C12Q1/6886 ,  G16B30/00 ,  C12Q1/6827 ,  C12Q1/6869

Abstract: This disclosure provides, among other things, methods for generating and applying therapeutic interventions. The methods involve, for example, (a) sequencing polynucleotides from cancer cells from a subject; (b) identifying and quantifying somatic mutations in the polynucleotides; (c) developing a profile of tumor heterogeneity in the subject indicating the presence and relative quantity of a plurality of the somatic mutations in the polynucleotides, wherein different relative quantities indicates tumor heterogeneity; and (d) determining a therapeutic intervention for a cancer exhibiting the tumor heterogeneity, wherein the therapeutic intervention is effective against a cancer having the profile of tumor heterogeneity determined.

公开(公告)号：US20220119880A1

公开(公告)日：2022-04-21

申请号：US17563816

申请日：2021-12-28

Applicant: GUARDANT HEALTH, INC.

Inventor： AmirAli TALASAZ ,  Helmy ELTOUKHY

IPC: C12Q1/6869 ,  C12Q1/6886

Abstract: Disclosed herein in are methods and systems for determining genetic variants (e.g., copy number variation) in a polynucleotide sample. A method for determining copy number variations includes tagging double-stranded polynucleotides with duplex tags, sequencing polynucleotides from the sample and estimating total number of polynucleotides mapping to selected genetic loci. The estimate of total number of polynucleotides can involve estimating the number of double-stranded polynucleotides in the original sample for which no sequence reads are generated. This number can be generated using the number of polynucleotides for which reads for both complementary strands are detected and reads for which only one of the two complementary strands is detected.

公开(公告)号：US20210395837A1

公开(公告)日：2021-12-23

申请号：US17462906

申请日：2021-08-31

Applicant: GUARDANT HEALTH, INC.

Inventor： Helmy ELTOUKHY ,  AmirAli TALASAZ ,  Bahram Ghaffarzadeh KERMANI ,  Nnamdi IHUEGBU

IPC: C12Q1/6886 ,  G16B30/00 ,  C12Q1/6827 ,  C12Q1/6869

Abstract: This disclosure provides, among other things, methods for generating and applying therapeutic interventions. The methods involve, for example, (a) sequencing polynucleotides from cancer cells from a subject; (b) identifying and quantifying somatic mutations in the polynucleotides; (c) developing a profile of tumor heterogeneity in the subject indicating the presence and relative quantity of a plurality of the somatic mutations in the polynucleotides, wherein different relative quantities indicates tumor heterogeneity; and (d) determining a therapeutic intervention for a cancer exhibiting the tumor heterogeneity, wherein the therapeutic intervention is effective against a cancer having the profile of tumor heterogeneity determined.

公开(公告)号：US20210102243A1

公开(公告)日：2021-04-08

申请号：US17070843

申请日：2020-10-14

Applicant: GUARDANT HEALTH, INC.

Inventor： AmirAli TALASAZ ,  Stefanie Ann Ward MORTIMER

IPC: C12Q1/6827 ,  C12Q1/6806 ,  G16B30/00

Abstract: The present disclosure provides a system and method for the detection of rare mutations and copy number variations in cell free polynucleotides. Generally, the systems and methods comprise sample preparation, or the extraction and isolation of cell free polynucleotide sequences from a bodily fluid; subsequent sequencing of cell free polynucleotides by techniques known in the art; and application of bioinformatics tools to detect rare mutations and copy number variations as compared to a reference. The systems and methods also may contain a database or collection of different rare mutations or copy number variation profiles of different diseases, to be used as additional references in aiding detection of rare mutations, copy number variation profiling or general genetic profiling of a disease.