公开(公告)号：US20250046394A1

公开(公告)日：2025-02-06

申请号：US18798594

申请日：2024-08-08

Applicant: Illumina, Inc.

Inventor： Tingting Jiang ,  Chen Zhao ,  Han-Yu Chuang

IPC: G16B20/20 ,  G06N3/047 ,  G06N3/126 ,  G16B20/00 ,  G16B30/00 ,  G16B30/10 ,  G16B35/00 ,  G16B40/00 ,  G16C20/60

Abstract: Methods and systems are provided for determining a variant of interest by analyzing sizes and sequences of cfDNA fragments obtained from a test sample. The methods and systems provided herein implement processes that synergistically combine size and sequence information, thereby improving specificity and sensitivity of assays over conventional methods.

公开(公告)号：US11342047B2

公开(公告)日：2022-05-24

申请号：US15957622

申请日：2018-04-19

Applicant: Illumina, Inc.

Inventor： Tingting Jiang ,  Chen Zhao ,  Han-Yu Chuang

IPC: G01N33/48 ,  G01N33/50 ,  G16B20/20 ,  G06N3/04 ,  G06N3/12 ,  G16B40/00 ,  G16B20/00 ,  G16B30/00 ,  G16B30/10 ,  G16B35/00 ,  G16C20/60

Abstract: Methods and systems are provided for determining a variant of interest by analyzing sizes and sequences of cfDNA fragments obtained from a test sample. The methods and systems provided herein implement processes that synergistically combine size and sequence information, thereby improving specificity and sensitivity of assays over conventional methods.

公开(公告)号：US20240304280A1

公开(公告)日：2024-09-12

申请号：US18664975

申请日：2024-05-15

Applicant: ILLUMINA, INC.

Inventor： Tingting Jiang ,  Chen Zhao

IPC: G16B20/20 ,  G16B30/00 ,  G16B40/00

CPC classification number: G16B20/20 ,  G16B30/00 ,  G16B40/00

Abstract: Presented herein are techniques for identifying and/or validating sequence variants in genomic sequence data. The techniques include generating an error rate reflective of sequence errors present in the genomic sequence data. The error rate may be used to validate potential sequence variants. The error rate may be based on errors identified during consensus sequence confirmation for sequence reads associated with individual unique molecular identifiers.

公开(公告)号：US12087401B2

公开(公告)日：2024-09-10

申请号：US17724951

申请日：2022-04-20

Applicant: Illumina, Inc.

Inventor： Tingting Jiang ,  Chen Zhao ,  Han-Yu Chuang

IPC: G01N33/48 ,  G01N33/50 ,  G06N3/047 ,  G06N3/126 ,  G16B20/00 ,  G16B20/20 ,  G16B30/00 ,  G16B30/10 ,  G16B40/00 ,  G16B35/00 ,  G16C20/60

CPC classification number: G16B20/20 ,  G06N3/047 ,  G06N3/126 ,  G16B20/00 ,  G16B30/00 ,  G16B30/10 ,  G16B40/00 ,  G16B35/00 ,  G16C20/60

Abstract: Methods and systems are provided for determining a variant of interest by analyzing sizes and sequences of cfDNA fragments obtained from a test sample. The methods and systems provided herein implement processes that synergistically combine size and sequence information, thereby improving specificity and sensitivity of assays over conventional methods.

公开(公告)号：US20220246234A1

公开(公告)日：2022-08-04

申请号：US17724951

申请日：2022-04-20

Applicant: Illumina, Inc.

Inventor： Tingting Jiang ,  Chen Zhao ,  Han-Yu Chuang

IPC: G16B20/20 ,  G06N3/04 ,  G06N3/12 ,  G16B40/00 ,  G16B20/00 ,  G16B30/00 ,  G16B30/10

Abstract: Methods and systems are provided for determining a variant of interest by analyzing sizes and sequences of cfDNA fragments obtained from a test sample. The methods and systems provided herein implement processes that synergistically combine size and sequence information, thereby improving specificity and sensitivity of assays over conventional methods.

公开(公告)号：US20210102199A1

公开(公告)日：2021-04-08

申请号：US17022597

申请日：2020-09-16

Applicant: ILLUMINA, INC.

Inventor： Tingting Jiang

IPC: C12N15/11 ,  C12N15/10 ,  C12Q1/6869 ,  C07K16/28 ,  C12Q1/6886 ,  A61K35/13

Abstract: Methods and systems are provided for differentiating between cancer variants and somatic variants originating from hematopoietic cells in a cell free DNA sample. In some embodiments, the cancer variants can be distinguished from a somatic variants originating from hematopoietic cells based on fragment size distribution.

公开(公告)号：US20240401035A1

公开(公告)日：2024-12-05

申请号：US18756941

申请日：2024-06-27

Applicant: ILLUMINA, INC.

Inventor： Tingting Jiang

IPC: C12N15/11 ,  A61K35/13 ,  C07K16/28 ,  C12N15/10 ,  C12Q1/6869 ,  C12Q1/6886

Abstract: Methods and systems are provided for differentiating between cancer variants and somatic variants originating from hematopoietic cells in a cell free DNA sample. In some embodiments, the cancer variants can be distinguished from somatic variants originating from hematopoietic cells based on fragment size distribution.

公开(公告)号：US12040047B2

公开(公告)日：2024-07-16

申请号：US16206552

申请日：2018-11-30

Applicant: ILLUMINA, INC.

Inventor： Tingting Jiang ,  Chen Zhao

IPC: G16B20/20 ,  G16B30/00 ,  G16B40/00

CPC classification number: G16B20/20 ,  G16B30/00 ,  G16B40/00

Abstract: Presented herein are techniques for identifying and/or validating sequence variants in genomic sequence data. The techniques include generating an error rate reflective of sequence errors present in the genomic sequence data. The error rate may be used to validate potential sequence variants. The error rate may be based on errors identified during consensus sequence confirmation for sequence reads associated with individual unique molecular identifiers.

公开(公告)号：US20190206510A1

公开(公告)日：2019-07-04

申请号：US16206552

申请日：2018-11-30

Applicant: ILLUMINA, INC.

Inventor： Tingting Jiang ,  Chen Zhao

IPC: G16B20/20 ,  G16B30/00

CPC classification number: G16B20/20 ,  G16B30/00 ,  G16B40/00

Abstract: Presented herein are techniques for identifying and/or validating sequence variants in genomic sequence data. The techniques include generating an error rate reflective of sequence errors present in the genomic sequence data. The error rate may be used to validate potential sequence variants. The error rate may be based on errors identified during consensus sequence confirmation for sequence reads associated with individual unique molecular identifiers.

公开(公告)号：US20180307796A1

公开(公告)日：2018-10-25

申请号：US15957622

申请日：2018-04-19

Applicant: Illumina, Inc.

Inventor： Tingting Jiang ,  Chen Zhao ,  Han-Yu Chuang

IPC: G06F19/24 ,  G06F19/18 ,  G06N3/12 ,  G06N3/04

CPC classification number: G06F19/24 ,  C40B30/02 ,  C40B50/02 ,  G06F19/18 ,  G06F19/22 ,  G06N3/0472 ,  G06N3/126

Abstract: Methods and systems are provided for determining a variant of interest by analyzing sizes and sequences of cfDNA fragments obtained from a test sample. The methods and systems provided herein implement processes that synergistically combine size and sequence information, thereby improving specificity and sensitivity of assays over conventional methods.