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公开(公告)号:US20210193260A1
公开(公告)日:2021-06-24
申请号:US16952507
申请日:2020-11-19
Applicant: Personalis, Inc.
Inventor: Jason Harris , Mark R. Pratt , John West , Richard Chen , Ming Li
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.
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公开(公告)号:US09727692B2
公开(公告)日:2017-08-08
申请号:US14871020
申请日:2015-09-30
Applicant: Personalis, Inc.
Inventor: Jason Harris , Mark R. Pratt , John West , Richard Chen , Ming Li
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.
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公开(公告)号:US12217830B2
公开(公告)日:2025-02-04
申请号:US17735904
申请日:2022-05-03
Applicant: Personalis, Inc.
Inventor: Nicholas Phillips , Jason Harris
IPC: G16B40/20 , C12Q1/6886 , G16B20/20 , C12Q1/686 , C12Q1/6874
Abstract: The disclosure provides methods for estimating tumor purity from tumor samples without use of matched-normal controls. A set of genomic regions are identified based on a nucleic acid sequence data that is aligned to a reference genome. Each genomic region of the set of genomic regions includes one or more nucleotide-sequence variants relative to a corresponding genomic region of the reference genome. A B-allele frequency distribution for the biological sample is determined based on a B-allele frequency determined for each genomic region of the set of genomic regions. The B-allele frequency distribution is processed using a trained machine-learning model to estimate a metric identifying tumor purity in the biological sample.
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公开(公告)号:US11456058B2
公开(公告)日:2022-09-27
申请号:US17746669
申请日:2022-05-17
Applicant: Personalis, Inc.
Inventor: Jason Harris , Mark R. Pratt , John West , Richard Chen , Ming Li
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.
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公开(公告)号:US20160019341A1
公开(公告)日:2016-01-21
申请号:US14871020
申请日:2015-09-30
Applicant: Personalis, Inc.
Inventor: Jason Harris , Mark R. Pratt , John West , Richard Chen , Ming Li
IPC: G06F19/22
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.
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公开(公告)号:US20220284984A1
公开(公告)日:2022-09-08
申请号:US17735906
申请日:2022-05-03
Applicant: Personalis, Inc.
Inventor: Patrick Jongeneel , Nicholas Phillips , Jason Harris
Abstract: Methods for somatic variant calling from an unmatched biological samples is provided. The method can include obtaining nucleic acid sequence data corresponding to a biological sample of a subject. The method can also include aligning the nucleic acid sequence data to a reference genome. The method can also include identifying, based on the aligned nucleic acid sequence data, a set of candidate variants in said nucleic acid sequence data. The set of candidate variants may include one or more somatic variants and one or more germline variants. The method can also include, without using a nucleic acid sequencing data from a matching biological sample of the subject, processing the set of candidate variants using a trained machine-learning model to identify the somatic variants. The method can also include outputting a report that identifies the somatic variants.
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公开(公告)号:US20240257913A1
公开(公告)日:2024-08-01
申请号:US18431138
申请日:2024-02-02
Applicant: Personalis, Inc.
Inventor: Jason Harris , Mark R. Pratt , John West , Richard Chen , Ming Li
CPC classification number: G16B30/10 , G06N3/126 , G16B20/00 , G16B20/20 , G16B30/00 , G16H50/00 , C12Q1/68
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.
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公开(公告)号:US11935625B2
公开(公告)日:2024-03-19
申请号:US16952507
申请日:2020-11-19
Applicant: Personalis, Inc.
Inventor: Jason Harris , Mark R. Pratt , John West , Richard Chen , Ming Li
CPC classification number: G16B30/10 , G06N3/126 , G16B20/00 , G16B20/20 , G16B30/00 , G16H50/00 , C12Q1/68
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.
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公开(公告)号:US10032000B1
公开(公告)日:2018-07-24
申请号:US15639610
申请日:2017-06-30
Applicant: Personalis, Inc.
Inventor: Jason Harris , Mark R. Pratt , John West , Richard Chen , Ming Li
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.
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公开(公告)号:US20220392577A1
公开(公告)日:2022-12-08
申请号:US17817581
申请日:2022-08-04
Applicant: Personalis, Inc.
Inventor: Jason Harris , Mark R. Pratt , John West , Richard Chen , Ming Li
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.
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