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21. 发明申请

WO2018144161A1 HIGH THROUGHPUT AUTOMATIC DIAGNOSTIC SYSTEM FOR REMOVING MICROPLATE LIDS 审中-公开
公开(公告)号：WO2018144161A1
公开(公告)日：2018-08-09
申请号：PCT/US2017/068096
申请日：2017-12-22
申请人： COUNSYL, INC.
发明人： KETNER, Clayton Salinger
IPC分类号： B01L9/00 , B01L3/00 , B25J15/00 , B25J15/10 , B25J18/00
CPC分类号： B01L9/50 , B01L2200/025 , B01L2200/18 , B01L2300/0627 , B01L2300/0829 , G01N35/00029 , G01N35/0099 , G01N2035/00039 , G01N2035/0418 , G01N2035/042
摘要： Automated diagnostic laboratory and laboratory management system for high throughout and methods of using the same, including subsystems and components for use with the same and devices for removing lids from microplates and methods of using the same.

22. 发明申请

WO2018136526A1 BALANCED CAPTURE PROBES AND METHODS OF USE THEREOF 审中-公开
公开(公告)号：WO2018136526A1
公开(公告)日：2018-07-26
申请号：PCT/US2018/014068
申请日：2018-01-17
申请人： COUNSYL, INC.
发明人： BEAUCHAMP, Kyle , MUZZEY, Dale , WELKER, Noah , MAGUIRE, Jared, Robert
IPC分类号： C12Q1/68 , C40B30/04 , C40B40/06
CPC分类号： C12Q1/6869 , B01J19/0046 , B01J2219/00572 , B01J2219/00722 , C12N15/1093 , C12Q1/6806 , C12Q1/6811 , C12Q1/6883 , C40B40/06 , C40B50/14 , G16B30/00 , C12Q2545/10 , C12Q2565/519
摘要： Capture probe libraries can be used to enrich a region of interest in a sequencing library for high-depth sequencing. The capture probes within the capture probe libraries often do not function in a predictable or uniform manner. Described herein are balanced capture probe libraries and methods of balancing capture probe libraries. A sequencing library can be enriched using balanced capture probe libraries, and the enriched sequencing library can be sequenced to obtain a sequencing depth closer to a desired sequencing depth.

23. 发明申请

WO2018064486A1 NONINVASIVE PRENATAL SCREENING USING DYNAMIC ITERATIVE DEPTH OPTIMIZATION 审中-公开
标题翻译：动态迭代深度优化的无创性初步筛选
公开(公告)号：WO2018064486A1
公开(公告)日：2018-04-05
申请号：PCT/US2017/054318
申请日：2017-09-29
申请人： COUNSYL, INC.
发明人： MUZZEY, Dale , ARTIERI, Carlo, G. , EVANS, Eric, Andrew , HAQUE, Imran, Saeedul
IPC分类号： A61K39/395 , A61P35/00 , C12P19/34 , C12Q1/68
摘要： Fetal maternal samples taken from pregnant women include both maternal cell-free DNA and fetal cell-tree DNA. Described herein are methods for determining a chromosomal abnormality of a test chromosome or a portion thereof in a fetus by analyzing a test maternal sample of a woman carrying said fetus, wherein the test maternal sample comprises fetal cell- free DNA and maternal cell-free DNA. The chromosomal abnormality can include aneuploidy or a microdeletion. In some embodiments, the chromosomal abnormality is determined by measuring a dosage of the test chromosome or portion thereof in the test maternal sample, measuring a fetal fraction of cell-free DNA in the test maternal sample, and determining an initial value of likelihood that the test chromosome or the portion thereof in the fetal cell-free DNA is abnormal based on the measured dosage, an expected dosage of the test chromosome or portion thereof, and the measured fetal fraction.
摘要翻译：从孕妇身上采集的胎儿母体样本包括母体无细胞DNA和胎儿细胞树DNA。本文描述了通过分析携带所述胎儿的妇女的测试母体样本来确定胎儿中测试染色体或其部分的染色体异常的方法，其中所述测试母体样本包含胎儿无细胞DNA和无母系细胞DNA 。染色体异常可能包括非整倍性或微缺失。在一些实施方案中，染色体异常通过测量测试母体样本中测试染色体或其部分的剂量，测量测试母体样本中无细胞DNA的胎儿分数并确定测试母体样本中无细胞DNA的可能性的初始值基于测量的剂量，测试染色体或其部分的预期剂量以及测量的胎儿分数，测试染色体或其在胎儿无细胞DNA中的部分是异常的。

24. 发明申请

WO2018031232A1 CONTACTLESS CONCENTRATION AND MIXING OF MAGNETIC MATERIAL IN LIQUID 审中-公开
标题翻译：液体中磁性材料的非接触浓度和混合
公开(公告)号：WO2018031232A1
公开(公告)日：2018-02-15
申请号：PCT/US2017/043810
申请日：2017-07-25
申请人： COUNSYL, INC.
发明人： LAPHAM, Kyle
IPC分类号： B03C1/01 , B03C1/24
CPC分类号： B03C1/01 , B03C1/0332 , B03C1/288 , B03C2201/18 , B03C2201/26
摘要： Methods are provided for concentrating magnetic material, such as magnetic affinity beads, in liquid samples in sample containers such as wells of multiwell sample processing plates or sample tubes. Methods are also provided for dispersing magnetic material in liquid samples to effect mixing of the liquid. The disclosed methods include movement of magnets, such as magnetic rods or pins, to concentrate or disperse magnetic material, such as movement of magnets in interwell spaces of a multiwell plates or in spaces between sample tubes in a tube rack.
摘要翻译：提供了用于将诸如磁性亲和珠子的磁性材料集中在样品容器（诸如多孔样品处理板或样品管的孔）中的液体样品中的方法。还提供了将磁性材料分散在液体样品中以实现液体混合的方法。所公开的方法包括诸如磁棒或销等磁体的移动以集中或分散磁性材料，例如磁体在多孔板的腔间空间中或管架中的样品管之间的空间中的移动。

25. 发明申请

WO2017214557A1 NUCLEIC ACID SEQUENCING ADAPTERS AND USES THEREOF 审中-公开
标题翻译：核酸序列适配器及其用途
公开(公告)号：WO2017214557A1
公开(公告)日：2017-12-14
申请号：PCT/US2017/036836
申请日：2017-06-09
申请人： COUNSYL, INC.
发明人： EVANS, Eric, Andrew , HAQUE, Imran, Saeedul , BEAUCHAMP, Kyle , CHU, Clement , ARTIERI, Carlo , WELKER, Noah
IPC分类号： G06F19/18 , G06F19/22 , G06N3/12 , C12Q1/68 , C40B20/04 , C40B40/06 , C40B50/06
CPC分类号： C12N15/1093 , C12N9/1252 , C12N15/10 , C12P19/34 , C12Q1/6806 , C12Q1/6832 , C12Q1/6869 , C12Q2525/191 , C12Q2527/107 , C12Q2563/179 , C12Y207/07007 , C12Q2563/185
摘要： High-fidelity, high-throughput nucleic acid sequencing enables healthcare practitioners and patients to gain insight into genetic variants and potential health risks. However, previous methods of nucleic acid sequencing often introduces sequencing errors (for example, mutations that arise during the preparation of a nucleic acid library, during amplification, or sequencing). Provided herein are sequencing adapters comprising a nondegenerate or variable length molecular barcode and compositions comprising a plurality of sequencing adapters, which can be useful for sequencing nucleic acids. Further provided are methods of using the sequencing adapters, including methods of sequencing nucleic acids, methods of identifying an error in a nucleic acid sequence, and methods of determining the number of nucleic acid molecules in a library.
摘要翻译：高保真，高通量的核酸测序使医疗从业人员和患者能够深入了解遗传变异和潜在的健康风险。然而，先前的核酸测序方法经常引入测序错误（例如，在制备核酸文库期间，在扩增期间或测序中出现的突变）。本文提供了包含非简并或可变长度分子条形码的测序接头和包含多个可用于测序核酸的测序接头的组合物。进一步提供了使用测序接头的方法，包括测序核酸的方法，鉴定核酸序列中错误的方法，以及确定库中核酸分子数量的方法。

26. 发明申请

WO2009139929A3 METHODS AND SYSTEMS FOR UNIVERSAL CARRIER SCREENING 审中-公开
公开(公告)号：WO2009139929A3
公开(公告)日：2009-11-19
申请号：PCT/US2009/003104
申请日：2009-05-18
申请人： COUNSYL, INC. , SRINIVASAN, Balaji, S. , SRINIVASAN, Balaji, K. , EVANS, Eric , SRINIVASAN, Ramji , BALAKRISHNAN, Kumaranayagam
发明人： SRINIVASAN, Balaji, S. , SRINIVASAN, Balaji, K. , EVANS, Eric , SRINIVASAN, Ramji , BALAKRISHNAN, Kumaranayagam
IPC分类号： C12Q1/68
摘要： Provided herein are methods, systems, and devices for genetic screening. The genetic screening of two or more individuals can be utilized to predict the phenotype of a child from the group of individuals. Also disclosed is prediction of a phenotype of a child from a subset of biological relatives, such as a potential mother and father, before conception. In many instances, the methods, systems and devices herein are utilized to predict the probability of a child developing a rare genetic disease.

27. 发明申请

WO2009139929A2 METHODS AND SYSTEMS FOR UNIVERSAL CARRIER SCREENING 审中-公开
标题翻译：通用载波筛选的方法和系统
公开(公告)号：WO2009139929A2
公开(公告)日：2009-11-19
申请号：PCT/US2009003104
申请日：2009-05-18
申请人： COUNSYL INC , SRINIVASAN BALAJI S , SRINIVASAN BALAJI K , EVANS ERIC , SRINIVASAN RAMJI , BALAKRISHNAN KUMARANAYAGAM
发明人： SRINIVASAN BALAJI S , SRINIVASAN BALAJI K , EVANS ERIC , SRINIVASAN RAMJI , BALAKRISHNAN KUMARANAYAGAM
IPC分类号： F41H1/02
CPC分类号： G06F19/24 , C12Q1/6883 , C12Q2600/124 , C12Q2600/156 , C12Q2600/158 , G06F19/14 , G06F19/18 , G06Q30/06 , G06Q30/0601 , G06Q99/00
摘要： Provided herein are methods, systems, and devices for genetic screening. The genetic screening of two or more individuals can be utilized to predict the phenotype of a child from the group of individuals. Also disclosed is prediction of a phenotype of a child from a subset of biological relatives, such as a potential mother and father, before conception. In many instances, the methods, systems and devices herein are utilized to predict the probability of a child developing a rare genetic disease.
摘要翻译：本文提供了用于遗传筛选的方法，系统和装置。可以利用两个或多个个体的遗传筛选来预测来自该组个体的儿童的表型。还公开了在受孕之前从生物亲属子集（例如潜在的母亲和父亲）预测儿童的表型。在许多情况下，本文的方法，系统和装置用于预测儿童发展罕见遗传疾病的概率。

28. 发明申请

WO2018222941A1 PREPARATION OF CONCATENATED POLYNUCLEOTIDES 审中-公开
公开(公告)号：WO2018222941A1
公开(公告)日：2018-12-06
申请号：PCT/US2018/035499
申请日：2018-05-31
申请人： COUNSYL, INC.
发明人： WELKER, Noah C. , CHU, Clement S.
IPC分类号： C12Q1/6844 , C12P19/34 , C12N15/10
摘要： Methods for preparing concatenated nucleic acid molecules are provided. The methods herein include adaptors with complementary sequences for preparation of concatenated nucleic acid molecules, and methods of sequencing such nucleic acids.

29. 发明申请

WO2018213591A1 MODULAR ROBOTIC SYSTEM FOR LABORATORY DIAGNOSTICS 审中-公开
公开(公告)号：WO2018213591A1
公开(公告)日：2018-11-22
申请号：PCT/US2018/033207
申请日：2018-05-17
申请人： COUNSYL, INC.
发明人： LAPHAM, Kyle Allen , ELDRIDGE, Nathan, Phillip
IPC分类号： B01L9/00 , B25J11/00 , B65G47/90 , B65G49/02 , G01N35/04 , G06F19/10
CPC分类号： B25J9/1664 , B25J9/0009 , B25J9/0084 , B25J9/0093 , B25J21/00 , G01N35/0099 , G01N35/02 , G01N2035/041 , G01N2035/042 , G01N2035/0422 , G01N2035/0465 , Y10S901/09 , Y10S901/27 , Y10S901/41 , Y10T436/114165
摘要： Described herein is a modular robotic system for processing a biological sample, and methods of using a modular robotic system for processing a biological sample. The modular robotic system includes a bidirectional plate transportation track to transport plates within the modular robotic system, as well as robotic arms that can transport the plate from a node on the bidirectional plate transportation tack to a sample processing module. Through this system, the sample and/or consumable plates can be transported throughout the processing system. Additionally, the modular robotic system is configured to be expandable, so that the system can be easily adapted to scale up biological sample processing laboratories.

30. 发明申请

WO2018175907A1 COPY NUMBER VARIANT CALLER 审中-公开
公开(公告)号：WO2018175907A1
公开(公告)日：2018-09-27
申请号：PCT/US2018/024062
申请日：2018-03-23
申请人： COUNSYL, INC.
发明人： HAAS, Kevin R. , WANG, Xin , GRAUMAN, Peter V.
IPC分类号： G06F19/22 , G06F19/24 , C40B30/02 , C12N15/10 , C12Q1/68
摘要： Direct targeted sequencing (DTS) methods and a hidden Markov model (HMM) can be used to call the copy number of a segment of interest within a region of interest. Described herein are methods for calling a copy number variant or a copy number variant abnormality using an HMM, and methods for determining a copy number based on a copy number likelihood model, in a test sequencing library that has be sequenced using DTS methods. Also described herein are methods for determining a copy number of a segment, including accounting for spurious capture probes that may arise from the DTS methods.

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