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1. 发明公开

EP4414990A2 METHODS AND SYSTEMS FOR GENETIC ANALYSIS 审中-公开
公开(公告)号：EP4414990A2
公开(公告)日：2024-08-14
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
IPC分类号： G16B35/10
CPC分类号： G16B20/00 , G16B30/00 , G16B35/00 , G16C20/60 , G16B35/10 , G16B20/20 , G16B20/10 , Y02A90/10
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.

2. 发明公开

EP3965111A1 METHODS AND SYSTEMS FOR GENOMIC ANALYSIS 审中-实审转让
公开(公告)号：EP3965111A1
公开(公告)日：2022-03-09
申请号：EP21190438.8
申请日：2014-08-28
申请人： Personalis, Inc.
发明人： HARRIS, Jason , PRATT, Mark R. , WEST, John , CHEN, Richard , LI, Ming
IPC分类号： G16B20/00 , G06N3/12 , G16B20/20 , G16B30/10 , G16B30/00 , C12Q1/6869
摘要： 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.

3. 发明公开

EP2946345A1 METHODS AND SYSTEMS FOR GENETIC ANALYSIS 有权转让
标题翻译： VERFAHREN UND系统ZUR PHYLOGENECHSENEN分析
公开(公告)号：EP2946345A1
公开(公告)日：2015-11-25
申请号：EP13871784.8
申请日：2013-12-27
申请人： Personalis, Inc.
发明人： BARTHA, Gabor T. , CHANDRATILLAKE, Gemma , CHEN, Richard , GARCIA, Sarah , LAM, Hugo Yu Kor , LUO, Shujun , PRATT, Mark R. , WEST, John
IPC分类号： G06N3/12
CPC分类号： C12Q1/6874 , C12Q1/6806 , C12Q1/6869 , C40B50/02 , G06F19/10 , G06F19/18 , G06F19/22
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.
摘要翻译：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的池或集合以及分析的序列信息。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。

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