公开(公告)号：US20220056521A1

公开(公告)日：2022-02-24

申请号：US17507578

申请日：2021-10-21

Applicant: Personalis, Inc.

Inventor： Gabor T. Bartha ,  Gemma Chandratillake ,  Richard Chen ,  Sarah Garcia ,  Hugo Yu Kor Lam ,  Shujun Luo ,  Mark R. Pratt ,  John West

IPC: C12Q1/6874 ,  G16B20/00 ,  G16B30/00 ,  G16B99/00 ,  G16B20/10 ,  G16B20/20 ,  G16B35/10 ,  C12Q1/6806

Abstract: This disclosure provides systems and methods for sample processing and data analysis. Sample processing may include nucleic acid sample processing and subsequent sequencing. Some or all of a nucleic acid sample may be sequenced to provide sequence information, which may be stored or otherwise maintained in an electronic storage location. The sequence information may be analyzed with the aid of a computer processor, and the analyzed sequence information may be stored in an electronic storage location that may include a pool or collection of sequence information and analyzed sequence information generated from the nucleic acid sample. Methods and systems of the present disclosure can be used, for example, for the analysis of a nucleic acid sample, for producing one or more libraries, and for producing biomedical reports. Methods and systems of the disclosure can aid in the diagnosis, monitoring, treatment, and prevention of one or more diseases and conditions.

公开(公告)号：US20210246510A1

公开(公告)日：2021-08-12

申请号：US16953758

申请日：2020-11-20

Applicant: Personalis, Inc.

Inventor： John West ,  Richard Chen ,  Christian Haudenschild ,  Gabor Bartha ,  Shujun Luo

IPC: C12Q1/6886 ,  C12Q1/689 ,  C12Q1/70

Abstract: Provided herein are compositions, methods, and systems for sample processing and/or data analysis. Sample processing may include nucleic acid sample processing and subsequent sequencing. Methods and systems of the present disclosure can be used, for example, for the analysis of a nucleic acid sample from a human, non-human, and combinations thereof.

公开(公告)号：US20210047687A1

公开(公告)日：2021-02-18

申请号：US17080474

申请日：2020-10-26

Applicant: Personalis, Inc.

Inventor： Gabor T. Bartha ,  Gemma Chandratillake ,  Richard Chen ,  Sarah Garcia ,  Hugo Yu Kor Lam ,  Shujun Luo ,  Mark R. Pratt ,  John West

IPC: C12Q1/6874 ,  G16B20/00 ,  G16B30/00 ,  G16B99/00 ,  C12Q1/6806

Abstract: This disclosure provides systems and methods for sample processing and data analysis. Sample processing may include nucleic acid sample processing and subsequent sequencing. Some or all of a nucleic acid sample may be sequenced to provide sequence information, which may be stored or otherwise maintained in an electronic storage location. The sequence information may be analyzed with the aid of a computer processor, and the analyzed sequence information may be stored in an electronic storage location that may include a pool or collection of sequence information and analyzed sequence information generated from the nucleic acid sample. Methods and systems of the present disclosure can be used, for example, for the analysis of a nucleic acid sample, for producing one or more libraries, and for producing biomedical reports. Methods and systems of the disclosure can aid in the diagnosis, monitoring, treatment, and prevention of one or more diseases and conditions.

公开(公告)号：US20210017603A1

公开(公告)日：2021-01-21

申请号：US17065411

申请日：2020-10-07

Applicant: Personalis, Inc.

Inventor： John West ,  Christian Haudenschild ,  Richard Chen

IPC: C12Q1/6883 ,  G16B30/00 ,  C12Q1/68 ,  G16B20/00 ,  G16B99/00 ,  G06N3/12 ,  C12Q1/6853 ,  C12Q1/6869

Abstract: The present disclosure provides methods and systems for personalized genetic testing of a subject. In some embodiments, a sequencing assay is performed on a biological sample from the subject, which then leads to genetic information related to the subject. Next, nucleic acid molecules are array-synthesized or selected based on the genetic information derived from data of the sequencing assay. At least some of the nucleic acid molecules may then be used in an assay which may provide additional information on one or more biological samples from the subject or a biological relative of the subject.

公开(公告)号：US10801064B2

公开(公告)日：2020-10-13

申请号：US16056982

申请日：2018-08-07

Applicant: Personalis, Inc.

Inventor： John West ,  Richard Chen ,  Christian Haudenschild ,  Gabor Bartha ,  Shujun Luo

IPC: C40B50/06 ,  C12Q1/6874 ,  C12Q1/6886 ,  C12Q1/689 ,  C12Q1/70

Abstract: Provided herein are compositions, methods, and systems for sample processing and/or data analysis. Sample processing may include nucleic acid sample processing and subsequent sequencing. Methods and systems of the present disclosure can be used, for example, for the analysis of a nucleic acid sample from a human, non-human, and combinations thereof.

公开(公告)号：US10255330B2

公开(公告)日：2019-04-09

申请号：US15083058

申请日：2016-03-28

Applicant: Personalis, Inc.

Inventor： Gemma L. Chandratillake ,  Sarah K. Garcia ,  Richard Chen ,  Michael James Clark

IPC: G06F17/30 ,  G06F19/18 ,  G06F19/28

Abstract: The disclosure provides methods and systems for analyzing genotype data. In some embodiments, a computer-implemented method comprises receiving data relating to one or more phenotypes of a subject or family members thereof, and ranking genes based on their association score with one or more phenotypes. Next, an output of the data is generated, the output comprising a comparison of the data based on the association score. The comparison can be in at least one of numeric and graphic form.

公开(公告)号：US20180327834A1

公开(公告)日：2018-11-15

申请号：US15996215

申请日：2018-06-01

Applicant: Personalis, Inc.

Inventor： Gabor T. Bartha ,  Gemma Chandratillake ,  Richard Chen ,  Sarah Garcia ,  Hugo Yu Kor Lam ,  Shujun Luo ,  Mark R. Pratt ,  John West

IPC: C12Q1/6874 ,  C12Q1/6806 ,  G06F19/22

CPC classification number: C12Q1/6874 ,  C12Q1/6806 ,  C12Q1/6869 ,  G16B20/00 ,  G16B30/00 ,  G16B35/00 ,  G16B99/00 ,  G16C20/60

Abstract: This disclosure provides systems and methods for sample processing and data analysis. Sample processing may include nucleic acid sample processing and subsequent sequencing. Some or all of a nucleic acid sample may be sequenced to provide sequence information, which may be stored or otherwise maintained in an electronic storage location. The sequence information may be analyzed with the aid of a computer processor, and the analyzed sequence information may be stored in an electronic storage location that may include a pool or collection of sequence information and analyzed sequence information generated from the nucleic acid sample. Methods and systems of the present disclosure can be used, for example, for the analysis of a nucleic acid sample, for producing one or more libraries, and for producing biomedical reports. Methods and systems of the disclosure can aid in the diagnosis, monitoring, treatment, and prevention of one or more diseases and conditions.

公开(公告)号：US20160017417A1

公开(公告)日：2016-01-21

申请号：US14810337

申请日：2015-07-27

Applicant: Personalis, Inc.

Inventor： Gabor T. Bartha ,  Gemma Chandratillake ,  Richard Chen ,  Sarah Garcia ,  Hugo Yu Kor Lam ,  Shujun Luo ,  Mark R. Pratt ,  John West

IPC: C12Q1/68

CPC classification number: C12Q1/6874 ,  C12Q1/6806 ,  C12Q1/6869 ,  C40B50/02 ,  G06F19/10 ,  G06F19/18 ,  G06F19/22

Abstract: This disclosure provides systems and methods for sample processing and data analysis. Sample processing may include nucleic acid sample processing and subsequent sequencing. Some or all of a nucleic acid sample may be sequenced to provide sequence information, which may be stored or otherwise maintained in an electronic storage location. The sequence information may be analyzed with the aid of a computer processor, and the analyzed sequence information may be stored in an electronic storage location that may include a pool or collection of sequence information and analyzed sequence information generated from the nucleic acid sample. Methods and systems of the present disclosure can be used, for example, for the analysis of a nucleic acid sample, for producing one or more libraries, and for producing biomedical reports. Methods and systems of the disclosure can aid in the diagnosis, monitoring, treatment, and prevention of one or more diseases and conditions.

Abstract translation: 本公开提供了用于样本处理和数据分析的系统和方法。 样品处理可包括核酸样品处理和随后的测序。 可以对核酸样品中的一些或全部进行测序以提供序列信息，其可以存储或以其他方式保持在电子存储位置。 可以借助于计算机处理器来分析序列信息，并且所分析的序列信息可以存储在电子存储位置中，该电子存储位置可以包括从核酸样品产生的序列信息和分析的序列信息的集合或集合。 本公开的方法和系统可用于例如核酸样品的分析，用于产生一个或多个文库以及用于生产生物医学报告。 本公开的方法和系统可以帮助诊断，监测，治疗和预防一种或多种疾病和病症。

公开(公告)号：US09183496B2

公开(公告)日：2015-11-10

申请号：US14474034

申请日：2014-08-29

Applicant: Personalis, Inc.

Inventor： Jason Harris ,  Mark R. Pratt ,  John West ,  Richard Chen ,  Ming Li

IPC: G06F19/22 ,  G06F15/00 ,  G06N3/12 ,  G06F19/18

CPC classification number: G06F19/22 ,  C12Q1/68 ,  G06F19/18 ,  G06N3/126

Abstract: A computer-implemented method for processing and/or analyzing nucleic acid sequencing data comprises receiving a first data input and a second data input. The first data input comprises untargeted sequencing data generated from a first nucleic acid sample obtained from a subject. The second data input comprises target-specific sequencing data generated from a second nucleic acid sample obtained from the subject. Next, with the aid of a computer processor, the first data input and the second data input are combined to produce a combined data set. Next, an output derived from the combined data set is generated. The output is indicative of the presence or absence of one or more polymorphisms of the first nucleic acid sample and/or the second nucleic acid sample.

Abstract translation: 用于处理和/或分析核酸测序数据的计算机实现的方法包括接收第一数据输入和第二数据输入。 第一数据输入包括从从受试者获得的第一核酸样品产生的非靶向测序数据。 第二数据输入包括从从受试者获得的第二核酸样品产生的靶特异性测序数据。 接下来，借助于计算机处理器，组合第一数据输入和第二数据输入以产生组合数据集。 接下来，生成从组合数据集导出的输出。 输出指示第一核酸样品和/或第二核酸样品的一个或多个多态性的存在或不存在。

公开(公告)号：US20150066824A1

公开(公告)日：2015-03-05

申请号：US14474034

申请日：2014-08-29

Applicant: Personalis, Inc.

Inventor： Jason Harris ,  Mark R. Pratt ,  John West ,  Richard Chen ,  Ming Li

IPC: G06N3/12

CPC classification number: G06F19/22 ,  C12Q1/68 ,  G06F19/18 ,  G06N3/126

Abstract: A computer-implemented method for processing and/or analyzing nucleic acid sequencing data comprises receiving a first data input and a second data input. The first data input comprises untargeted sequencing data generated from a first nucleic acid sample obtained from a subject. The second data input comprises target-specific sequencing data generated from a second nucleic acid sample obtained from the subject. Next, with the aid of a computer processor, the first data input and the second data input are combined to produce a combined data set. Next, an output derived from the combined data set is generated. The output is indicative of the presence or absence of one or more polymorphisms of the first nucleic acid sample and/or the second nucleic acid sample.

Abstract translation: 用于处理和/或分析核酸测序数据的计算机实现的方法包括接收第一数据输入和第二数据输入。 第一数据输入包括从从受试者获得的第一核酸样品产生的非靶向测序数据。 第二数据输入包括从从受试者获得的第二核酸样品产生的靶特异性测序数据。 接下来，借助于计算机处理器，组合第一数据输入和第二数据输入以产生组合数据集。 接下来，生成从组合数据集导出的输出。 输出指示第一核酸样品和/或第二核酸样品的一个或多个多态性的存在或不存在。