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公开(公告)号:EP4460825A1
公开(公告)日:2024-11-13
申请号:EP23737750.2
申请日:2023-01-05
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公开(公告)号:EP4414990A3
公开(公告)日:2024-11-06
申请号:EP24159457.1
申请日:2013-12-27
申请人: Personalis, Inc.
发明人: WEST, John , BARTHA, Gabor T. , CHEN, Richard , PRATT, Mark R. , CHANDRATILLANKE, Gemma , LAM, Hugo Yu Kor , LUO, Shujun , GARCIA, Sarah
摘要: 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.
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公开(公告)号:EP4407625A3
公开(公告)日:2024-10-23
申请号:EP24169193.0
申请日:2017-05-25
发明人: FAN, Jue , TSAI, Jennifer , SHUM, Eleen , DENG, Lisha , FU, Glenn K.
摘要: Disclosed herein are methods and systems for determining the numbers of targets. In some embodiments, the method comprise: stochastically barcoding targets using stochastic barcodes; obtaining sequencing data; for one or more of the targets: counting the number of molecular labels with distinct sequences associated with the target in the sequencing data; identifying clusters of molecular labels of the target using directional adjacency; collapsing the sequencing data using the clusters of molecular labels of the target identified; and estimating the number of the target.
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公开(公告)号:EP4439565A1
公开(公告)日:2024-10-02
申请号:EP22898906.7
申请日:2022-11-11
申请人: Genomecare Co., Ltd.
摘要: Provided are: a method for detecting chromosome aneuploidy of a fetus on the basis of virtual data; and a computer-readable medium for recording a program applied to perform the method. According to the present invention, non-invasive prenatal diagnosis of chromosome aneuploidy in a fetus can be performed with excellent sensitivity and specificity.
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公开(公告)号:EP4426861A1
公开(公告)日:2024-09-11
申请号:EP22891049.3
申请日:2022-11-03
申请人: Mirvie, Inc.
发明人: JAIN, Maneesh , NAMSARAEV, Eugeni , RASMUSSEN, Morten , CAMUNAS SOLER, Joan , SIDDIQUI, Farooq , REDDY, Mitsu , GEE, Elaine , KHODURSKY, Arkady , NOLAN, Rory , LEE, Manfred
IPC分类号: C12Q1/6883 , G16B20/00 , G16B30/00 , G16H10/40 , G16H50/20
CPC分类号: G16H50/20 , C12Q1/6883 , G16B20/00 , G16H50/30 , G16B25/10 , C12Q2600/15820130101 , C12Q2600/15420130101 , G16H20/10 , G16H50/70
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6.
公开(公告)号:EP4394778A3
公开(公告)日:2024-08-28
申请号:EP24170634.0
申请日:2020-05-15
申请人: Illumina Inc.
发明人: KOSTEM, Emrah
IPC分类号: G01N21/64 , G06F18/2413 , G06V10/82 , G16B30/00 , G16B40/10 , C12Q1/6869 , G06N3/045 , G06N3/048 , G06N3/082 , G06N3/084 , G06N3/088 , G06N5/022 , G06N5/048
CPC分类号: C12Q1/6869 , G01N21/6428 , G01N21/6454 , G06N3/084 , G16B30/00 , G16B40/10 , G06N3/082 , G06N3/088 , G06N5/022 , G06N5/048 , G06V10/82 , G06N3/048 , G06N3/045 , G06F18/24133
摘要: A method of determining tag signals from measured intensities is disclosed, the measured intensities collected by light sensors (206, 208, 210, 212, 214) in a sensor array directed to a sample surface (234), the sample surface (234) including pixel areas (206', 208', 210', 212', 214') and holding a plurality of clusters ( 206A, 206B, 208A, 208B, 210A, 210B, 212A, 212B, 214A, 214B ) during a sequence of sampling events, each light sensor (206, 208, 210, 212, 214) directed to and measuring intensity from one of the pixel areas (206', 208', 210', 212', 214') during each sampling period includes adjustments for background intensity (675) and crosstalk (645) and taking into account signal decay (625) and phasing (623) / pre-phasing. Coefficients for the adjustments can be determined by gradient descent, using as ground truth base calling by the system or by using reliable base calling of well- sample run through the system.
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公开(公告)号:EP4405955A1
公开(公告)日:2024-07-31
申请号:EP22789405.2
申请日:2022-09-21
申请人: Illumina, Inc.
IPC分类号: G16B40/20 , C12Q1/6869 , G16B30/00
CPC分类号: C12Q1/6869 , G16B40/20 , G16B30/00
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9.
公开(公告)号:EP4399710A2
公开(公告)日:2024-07-17
申请号:EP22801213.4
申请日:2022-09-07
发明人: WILM, Andreas , ENG, Loan, Ping , SCHMIDT, Florian
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