公开(公告)号：US20240425915A1

公开(公告)日：2024-12-26

申请号：US18813477

申请日：2024-08-23

Applicant: GUARDANT HEALTH, INC.

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

IPC: 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：US20240200123A1

公开(公告)日：2024-06-20

申请号：US18535812

申请日：2023-12-11

Applicant: GUARDANT HEALTH, INC.

Inventor： AmirAli TALASAZ ,  Stefanie Ann Ward MORTIMER

IPC: C12Q1/6827 ,  C12Q1/6806 ,  C12Q1/6869 ,  G16B30/00

CPC classification number: C12Q1/6827 ,  C12Q1/6806 ,  G16B30/00 ,  C12Q1/6869

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：US20240182977A1

公开(公告)日：2024-06-06

申请号：US18436821

申请日：2024-02-08

Applicant: GUARDANT HEALTH, INC.

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

IPC: C12Q1/6886 ,  C12M1/00 ,  C12M1/34 ,  C12Q1/6806 ,  C12Q1/6855 ,  C12Q1/6869 ,  G01N33/574 ,  G16B20/20 ,  G16B30/10 ,  G16H50/20 ,  G16H50/30

CPC classification number: C12Q1/6886 ,  C12M1/00 ,  C12M1/34 ,  C12Q1/6806 ,  C12Q1/6855 ,  C12Q1/6869 ,  G01N33/57407 ,  G16B20/20 ,  G16B30/10 ,  G16H50/20 ,  G16H50/30 ,  C12Q2600/118 ,  C12Q2600/154 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/166

Abstract: Disclosed herein are methods, compositions, and devices for use in the early detection of cancer. The methods include preparing cell-free nucleic acid molecules from a subject for sequencing, sequencing a panel of regions in the cell-free nucleic acid molecules, and detecting one or more markers that are indicative of a cancer.

公开(公告)号：US20240102101A1

公开(公告)日：2024-03-28

申请号：US18185683

申请日：2023-03-17

Applicant: GUARDANT HEALTH, INC.

Inventor： AmirAli TALASAZ

IPC: C12Q1/6886 ,  C12N15/10 ,  C12Q1/6869 ,  C12Q1/6883 ,  G16B30/00 ,  G16B30/10

CPC classification number: C12Q1/6886 ,  C12N15/1072 ,  C12Q1/6869 ,  C12Q1/6883 ,  G16B30/00 ,  G16B30/10 ,  C12Q2600/118 ,  C12Q2600/156

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：US20230323477A1

公开(公告)日：2023-10-12

申请号：US18333436

申请日：2023-06-12

Applicant: GUARDANT HEALTH, INC.

Inventor： AmirAli TALASAZ

IPC: C12Q1/6886 ,  C12N15/10 ,  C12Q1/6806 ,  C12Q1/6869 ,  C12Q1/6874 ,  G16B30/00 ,  G16B30/10

CPC classification number: C12Q1/6886 ,  C12N15/1065 ,  C12Q1/6806 ,  C12Q1/6869 ,  C12Q1/6874 ,  G16B30/00 ,  G16B30/10 ,  C12Q2600/16 ,  C12Q2600/158 ,  C12Q2600/118 ,  C12Q2600/156

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：US20230141527A1

公开(公告)日：2023-05-11

申请号：US17809540

申请日：2022-06-28

Applicant: GUARDANT HEALTH, INC.

Inventor： Andrew KENNEDY ,  Stefanie Ann Ward MORTIMER ,  AmirAli TALASAZ ,  Darya CHUDOVA ,  Helmy ELTOUKHY ,  Oliver ZILL ,  Richard B. LANMAN ,  Rebecca NAGY ,  Christine LEE ,  Kimberley BANKS

IPC: C12Q1/6806 ,  C12Q1/6855 ,  C12Q1/6886

CPC classification number: C12Q1/6806 ,  C12Q1/6855 ,  C12Q1/6886 ,  C12Q2600/156 ,  C12Q2600/158

Abstract: Methods of preparing double-stranded nucleic acids with single-stranded overhangs for amplification and sequencing are disclosed. Contacting a blunt-ended double-stranded nucleic acid molecules with Taq results in non-templated directed addition of a single nucleotide to the 3′ ends of the nucleic acid with A added most frequently followed by G followed by C and T. G tailing is sufficiently frequent that the efficiency of ligation of nucleic acid molecules to adapters can be significantly increased by including adapters tailed with T and C. The ligation efficiency can be increased even further with blunted-ended adapters to ligate to blunt-ended nucleic acid molecules that failed to undergo tailing.

公开(公告)号：US20220380842A1

公开(公告)日：2022-12-01

申请号：US17810103

申请日：2022-06-30

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：US20220145385A1

公开(公告)日：2022-05-12

申请号：US17563781

申请日：2021-12-28

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：US20210395814A1

公开(公告)日：2021-12-23

申请号：US17410903

申请日：2021-08-24

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：US20210355549A1

公开(公告)日：2021-11-18

申请号：US17386338

申请日：2021-07-27

Applicant: GUARDANT HEALTH, INC.

Inventor： AmirAli TALASAZ

IPC: C12Q1/6886 ,  C12N15/10 ,  C12Q1/6874 ,  C12Q1/6869 ,  G16B30/00 ,  G16B30/10 ,  C12Q1/6806

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.