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1. 发明申请

WO2012103031A2 DETECTION OF GENETIC ABNORMALITIES 审中-公开
标题翻译：检测遗传异常
公开(公告)号：WO2012103031A2
公开(公告)日：2012-08-02
申请号：PCT/US2012/022261
申请日：2012-01-23
申请人： ARIOSA DIAGNOSTICS, INC. , OLIPHANT, Arnold , SPARKS, Andrew , SONG, Ken , STUELPNAGEL, John
发明人： OLIPHANT, Arnold , SPARKS, Andrew , SONG, Ken , STUELPNAGEL, John
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6827 , C12Q1/6883 , C12Q2600/156
摘要： The present invention provides assay systems and related methods for determining genetic abnormalities in mixed samples comprising cell free DNA from both normal and putative genetically atypical cells. Exemplary mixed samples for analysis using the assay systems of the invention include samples comprising both maternal and fetal cell free DNA and samples that contain DNA from normal cells and circulating cancerous cells.
摘要翻译：本发明提供了用于测定包含来自正常和推定的遗传非典型细胞的无细胞DNA的混合样品中的遗传异常的测定系统和相关方法。使用本发明的测定系统进行分析的示例性混合样品包括含有母体和胎儿无细胞DNA的样品以及含有来自正常细胞的DNA和循环癌细胞的样品。

2. 发明申请

WO2012019193A3 ASSAY SYSTEMS FOR GENETIC ANALYSIS 审中-公开
公开(公告)号：WO2012019193A3
公开(公告)日：2012-02-09
申请号：PCT/US2011/046963
申请日：2011-08-08
申请人： ARIOSA DIAGNOSTICS, INC. , SPARKS, Andrew , OLIPHANT, Arnold , ZAHN, Jacob , SONG, Ken , STUELPNAGEL, John
发明人： SPARKS, Andrew , OLIPHANT, Arnold , ZAHN, Jacob , SONG, Ken , STUELPNAGEL, John
IPC分类号： C12Q1/68
摘要： The present invention provides assay systems and methods for detection of copy number variation at one or more loci and polymorphism detection at one or more loci in a mixed sample from an individual.

3. 发明申请

WO2012118745A1 ASSAY SYSTEMS FOR DETECTION OF ANEUPLOIDY AND SEX DETERMINATION 审中-公开
标题翻译：用于检测异常和性别测定的测定系统
公开(公告)号：WO2012118745A1
公开(公告)日：2012-09-07
申请号：PCT/US2012/026754
申请日：2012-02-27
申请人： OLIPHANT, Arnold , SONG, Ken
发明人： OLIPHANT, Arnold , SONG, Ken
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6879 , C12Q1/6883 , C12Q2600/156 , C12Q2600/16
摘要： The present invention utilizes detection of selected nucleic acid regions from pseudoautosomal regions to identify sex chromosomal aneuploidy and to determine fetal sex. Traditional methods of detecting sex chromosomal aneuploidies and performing sex determination typically involves some analysis of the Y chromosome. The assay systems of the present invention utilizing copy number variant detection of pseudoautosomal regions allows quantification of the sex chromosomes in mixed samples using loci that display autosomal inheritance patterns.
摘要翻译：本发明利用来自假性染色体区域的选定核酸区域的检测来鉴定性染色体非整倍性并确定胎儿性别。检测性染色体非整倍体并进行性别决定的传统方法通常涉及Y染色体的一些分析。利用伪染色体区域的拷贝数变体检测的本发明的测定系统允许使用显示常染色体遗传模式的位点对混合样品中的性染色体进行定量。

4. 发明申请

WO2012019198A2 ASSAY SYSTEMS FOR GENETIC ANALYSIS 审中-公开
标题翻译：用于遗传分析的测定系统
公开(公告)号：WO2012019198A2
公开(公告)日：2012-02-09
申请号：PCT/US2011/046976
申请日：2011-08-08
申请人： TANDEM DIAGNOSTICS, INC. , SPARKS, Andrew , OLIPHANT, Arnold , ZAHN, Jacob , SONG, Ken , STUELPNAGEL, John
发明人： SPARKS, Andrew , OLIPHANT, Arnold , ZAHN, Jacob , SONG, Ken , STUELPNAGEL, John
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6827 , C12Q1/6809 , C12Q1/6862 , C12Q2525/155 , C12Q2525/161 , C12Q2533/107 , C12Q2535/131 , C12Q2565/514 , C12Q2565/543
摘要： The present invention provides assays systems and methods for detection of chromosomal abnormalities and status of single loci associated with monogenic or polygenic traits in a sample containing nucleic acids from a maternal and a fetal source.
摘要翻译：本发明提供了用于检测含有来自母体和胎儿来源的核酸的样品中与单基因或多基因性状相关的单基因座的染色体异常和状态的检测系统和方法。

5. 发明申请

WO2012019187A3 LIGATION-BASED DETECTION OF GENETIC VARIANTS 审中-公开
公开(公告)号：WO2012019187A3
公开(公告)日：2012-02-09
申请号：PCT/US2011/046935
申请日：2011-08-08
申请人： AROISA DIAGNOSTICS, INC. , OLIPHANT, Arnold , SPARKS, Andrew , ZAHN, Jacob , STUELPNAGEL, John , SONG, Ken
发明人： OLIPHANT, Arnold , SPARKS, Andrew , ZAHN, Jacob , STUELPNAGEL, John , SONG, Ken
IPC分类号： C12Q1/68
摘要： The present invention provides assays systems and methods for detection of genetic variants in a sample, including copy number variation and single nucleotide polymorphisms. The invention preferably employs the technique of tandem ligation, i.e. the ligation of two or more fixed sequence oligonucleotides and one or more bridging oligonucleotides complementary to a region between the fixed sequence oligonucleotides.

6. 发明申请

WO2012019200A2 ASSAY SYSTEMS FOR DETERMINATION OF SOURCE CONTRIBUTION IN A SAMPLE 审中-公开
标题翻译：用于确定样品中源的贡献的测定系统
公开(公告)号：WO2012019200A2
公开(公告)日：2012-02-09
申请号：PCT/US2011/046981
申请日：2011-08-08
申请人： TANDEM DIAGNOSTICS, INC. , SPARKS, Andrew , STRUBLE, Craig , WANG, Eric , OLIPHANT, Arnold
发明人： SPARKS, Andrew , STRUBLE, Craig , WANG, Eric , OLIPHANT, Arnold
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6827 , C12Q1/6809 , C12Q1/6862 , C12Q2525/155 , C12Q2525/161 , C12Q2533/107 , C12Q2535/131 , C12Q2565/514 , C12Q2565/543
摘要： The present invention provides assay systems and methods for detection of copy number variation at one or more loci and polymorphism detection at one or more loci in a mixed sample from an individual.
摘要翻译：本发明提供用于检测来自个体的混合样品中一个或多个基因座的一个或多个基因座上的拷贝数变异和多态性检测的测定系统和方法。

7. 发明申请

WO2005082110A2 HAPLOTYPE MARKERS FOR DIAGNOSING SUSCEPTIBILITY TO IMMUNOLOGICAL CONDITIONS 审中-公开
标题翻译：用于诊断对免疫条件的可靠性的快速标记
公开(公告)号：WO2005082110A2
公开(公告)日：2005-09-09
申请号：PCT/US2005/006628
申请日：2005-02-28
申请人： ILLUMINA INC. , OLIPHANT, Arnold , MURRAY, Sarah
发明人： OLIPHANT, Arnold , MURRAY, Sarah
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C12Q2600/156 , C12Q2600/172
摘要： The invention provides a method of identifying a SNP haplotype that correlates with an HLA type, MHC allele or susceptibility to a particular disease or condition including the steps of (a) providing the identity of the nucleotide for each of a set of single nucleotide polymorphism (SNPs) in the major histocompatability complex (MHC) region in a population of individuals; (b) providing the HLA type, MHC allele or susceptibility to the particular disease or condition for the individuals; and (c) identifying a SNP haplotype in the population that correlates with the HLA type, MHC allele or susceptibility to the particular disease or condition, wherein the SNP haplotype includes the SNPs in the MHC region. The invention further provides a method for predicting an HLA type, MHC allele or susceptibility to a particular disease or condition of an individual including the steps of (a) providing the identity of a plurality of SNPs in one or more nucleic acids from the individual that correlate with an HLA type, MHC allele or susceptibility to a particular disease or condition; and (b) predicting the HLA type, MHC genotype or susceptibility to a particular disease or condition for the individual based on a SNP haplotype comprising the plurality of SNPs. The invention also provides SNPs and oligonucleotide probes that are useful for identifying haplotypes associated with a particular disease or condition or with the presence of particular protein variants involved in immunological recognition. The SNPs and probes are also useful for predicting HLA-type, HLA genotype or susceptibility to a particular disease or condition.
摘要翻译：本发明提供了鉴定与特定疾病或病症的HLA类型，MHC等位基因或易感性相关的SNP单倍型的方法，包括以下步骤：（a）提供一组单核苷酸多态性中的每一个的核苷酸的身份（ SNPs）在人群中的主要组织相容性复合体（MHC）区域; （b）为个体提供HLA类型，MHC等位基因或对特定疾病或病症的易感性; 和（c）识别与HLA类型，MHC等位基因或对特定疾病或病症的易感性相关的群体中的SNP单倍型，其中所述SNP单倍型包括MHC区域中的SNP。本发明还提供了一种用于预测HLA类型，MHC等位基因或对个体的特定疾病或病症的易感性的方法，包括以下步骤：（a）在个体的一个或多个核酸中提供多个SNP的身份，与HLA类型，MHC等位基因或对特定疾病或病症的易感性相关; 和（b）基于包含多个SNP的SNP单元型，预测HLA类型，MHC基因型或对个体的特定疾病或病症的易感性。本发明还提供可用于鉴定与特定疾病或病症相关的单倍型或涉及免疫学识别的特定蛋白质变体的存在的SNP和寡核苷酸探针。 SNP和探针也可用于预测HLA型，HLA基因型或对特定疾病或病症的易感性。

8. 发明申请

WO2004001062A3 MULTIPLEX NUCLEIC ACID REACTIONS 审中-公开
公开(公告)号：WO2004001062A3
公开(公告)日：2003-12-31
申请号：PCT/US2003/019680
申请日：2003-06-20
申请人： ILLUMINA, INC. , SHEN, Min-Jui, Richard , OLIPHANT, Arnold , BUTLER, Scott, L. , STUELPNAGEL, John, R. , CHEE, Mark, S. , KUHN, Kenneth, M. , FAN, Jian-Bing
发明人： SHEN, Min-Jui, Richard , OLIPHANT, Arnold , BUTLER, Scott, L. , STUELPNAGEL, John, R. , CHEE, Mark, S. , KUHN, Kenneth, M. , FAN, Jian-Bing
IPC分类号： C12P19/34
摘要： The invention is directed to a variety of multiplexing methods used to amplify and/or genotype a variety of samples simultaneously.

9. 发明申请

WO2019035897A1 SCANNING APPARATUS AND METHODS USEFUL FOR DETECTION OF CHEMICAL AND BIOLOGICAL ANALYTES 审中-公开
公开(公告)号：WO2019035897A1
公开(公告)日：2019-02-21
申请号：PCT/US2018/000164
申请日：2018-08-15
申请人： OMNIOME, INC. , ERICKSTAD, Michael, John , MCGINLEY, Rebecca , NEMIROSKI, Alex , RAPOPORT, Harry, Scott , OLIPHANT, Arnold
发明人： ERICKSTAD, Michael, John , MCGINLEY, Rebecca , NEMIROSKI, Alex , RAPOPORT, Harry, Scott , OLIPHANT, Arnold , BUERMANN, Dale
IPC分类号： B01L9/00 , G01N21/13 , G01N21/90
摘要： An apparatus can include a vessel, a reference surface, a preload, a scan actuator, and a transmitter. The reference surface can form a structural loop with a detector. The preload can be configured to urge the vessel to contact an area on the reference surface. The scan actuator can be configured to slide the vessel along the reference surface in a scan dimension. The transmitter can be configured to direct signal from the vessel to a detector and/or direct energy from an energy source to the vessel, when the vessel is urged by the preload to contact the reference surface.

10. 发明申请

WO2009094583A1 METHODS AND COMPOSITIONS FOR PREVENTING BIAS IN AMPLIFICATION AND SEQUENCING REACTIONS 审中-公开
标题翻译：用于防止放大和序列反应中的偏差的方法和组合物
公开(公告)号：WO2009094583A1
公开(公告)日：2009-07-30
申请号：PCT/US2009/031897
申请日：2009-01-23
申请人： COMPLETE GENOMICS, INC. , SHANNON, Karen , CALLOW, Matthew , SPARKS, Andrew , OLIPHANT, Arnold
发明人： SHANNON, Karen , CALLOW, Matthew , SPARKS, Andrew , OLIPHANT, Arnold
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6855 , C12Q2531/125 , C12Q2525/151 , C12Q2521/313
摘要： The present invention is directed to compositions and methods for nucleic acid identification and detection. Compositions and methods of the present invention include template nucleic acids with stabilizing sequences. The present invention also includes concatemers formed from template nucleic acids that have stabilizing sequences, arrays of such concatemers, as well as methods for identifying and detecting sequences of such concatemers.
摘要翻译：本发明涉及用于核酸鉴定和检测的组合物和方法。本发明的组合物和方法包括具有稳定序列的模板核酸。本发明还包括由具有稳定序列的模板核酸，这种并发物的阵列以及用于鉴定和检测这些并发物的序列的方法形成的连接体。

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