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81. 发明申请

WO2015195692A1 PINCH FLOW REGULATOR 审中-公开
标题翻译： PINCH流量调节器
公开(公告)号：WO2015195692A1
公开(公告)日：2015-12-23
申请号：PCT/US2015/036071
申请日：2015-06-16
申请人： LIFE TECHNOLOGIES CORPORATION
发明人： SCHULTZ, Jonathan
IPC分类号： F16K7/07 , G05D16/06 , G05D16/18
CPC分类号： F16K7/07 , B01L3/567 , B01L2200/06 , C12Q1/6869 , F16K7/04 , G05D16/0638 , G05D16/185
摘要： A valve for regulating fluid flow includes a housing base defining a lower cavity and comprising a pinch structure within the lower cavity, a gas inlet providing external access to the lower cavity, a base fluid inlet, and a base fluid outlet. A housing cover defines an upper cavity and comprises a cover fluid inlet and a cover fluid outlet. The cover fluid inlet is in fluidic communication with the base fluid outlet between the upper cavity and the lower cavity, and the cover fluid outlet provides external access from the upper cavity. A diaphragm is disposed between the housing base and the housing cover. A pinch plate is disposed in the lower cavity and comprises a pinch point disposed opposite the pinch structure. A pinch tube is in fluidic communication between the base fluid inlet and the base fluid outlet in the lower cavity.
摘要翻译：用于调节流体流动的阀包括限定下腔的壳体底座，并且在下腔体内包括夹紧结构，提供对下腔室的外部通路的气体入口，基础流体入口和基础流体出口。壳体盖限定上腔，并且包括盖流体入口和盖流体出口。覆盖流体入口与上腔和下腔之间的基础流体出口流体连通，并且盖流体出口提供从上腔体的外部通路。隔膜设置在壳体基座和壳体盖之间。压板设置在下腔体中，并且包括与夹紧结构相对设置的夹点。夹管在底部流体入口和下腔体中的基础流体出口之间流体连通。

82. 发明申请

WO2015181718A1 METHOD OF PRENATAL DIAGNOSIS 审中-公开
标题翻译：临床诊断方法
公开(公告)号：WO2015181718A1
公开(公告)日：2015-12-03
申请号：PCT/IB2015/053926
申请日：2015-05-26
申请人： EBIOS FUTURA S.R.L.
发明人： BENELLI, Matteo , GERUNDINO, Francesca , GIACHINI, Claudia , PESCUCCI, Chiara
IPC分类号： C12Q1/68 , G06F19/18 , G06F19/22 , G06F19/24
CPC分类号： C12Q1/6869 , C12Q2537/159 , C12Q2537/16 , C12Q2537/165 , G06F19/18 , G06F19/22 , G06F19/24
摘要： Method of prenatal diagnosis comprising the steps of: acquiring (1) reads of fragments of genomic libraries obtained from circulating free total DNA in a sample of maternal plasma, the DNA representing a plurality of chromosomes; aligning (2) the reads with respect to a predetermined reference genome obtaining a first dataset (SAM); converting (4) the first dataset (SAM) into a second dataset (BAM) so as to allow sorting thereof according to chromosomal coordinates and successive duplicate removal, obtaining a third dataset containing all the reads aligned and devoid of duplicates; subdividing (6) at least one chromosome into windows of predetermined dimensions, so as to count the reads which have a "mapping validity" greater than or equal to a threshold value in each reading window, obtaining a total number of above-threshold reads (N W ); normalizing, for each reading window, the total number of above-threshold reads (N W ) with respect to the total number (N tot ) of reads of the fragment of genomic library obtaining a first normalized datum (N W,lib ); normalizing (8), for each reading window, the first normalized datum (N W,lib ) with respect to a systematic error due to the content of G and C bases, obtaining a second normalized datum (N W,lib,GC ); calculating (10), for each chromosome, a median of all the second normalized data (N W,lib,GC ) obtaining a final value (N ji ); calculating (12) an aneuploidy parameter (Z) for at least one chromosome; determining the aneuploidy parameter (Z) of at least one chromosome so as to evaluate whether the sample of maternal plasma is aneuploid.
摘要翻译：产前诊断方法，包括以下步骤：（1）读取母体血浆样本中循环游离总DNA获得的基因组文库片段，DNA代表多条染色体; 对准（2）相对于获得第一数据集（SAM）的预定参考基因组的读取; 将所述第一数据集（SAM）转换（4）到第二数据集（BAM）中，以便根据染色体坐标和连续的重复删除来对其进行排序，获得包含所有对齐和没有重复的读出的第三数据集; 将至少一个染色体（6）细分为预定尺寸的窗口，以便对每个阅读窗口中具有大于或等于阈值的“映射有效性”的读数进行计数，获得高于阈值读数的总数（ NW）; 归一化，对于每个阅读窗口，相对于获得第一标准化数据（NW，lib）的基因组文库的片段的读数的总数（Ntot）的阈值读数（NW）的总数; 对于每个阅读窗口，归一化（8）关于由于G和C基数的内容导致的系统误差的第一归一化数据（NW，lib），获得第二归一化数据（NW，lib，GC）; 对于每个染色体，计算（10）所有第二归一化数据（NW，lib，GC）的中值，获得最终值（Nji）; 计算（12）至少一个染色体的非整倍体参数（Z）; 确定至少一条染色体的非整倍性参数（Z），以评估母体血浆样品是否为非整倍体。

83. 发明申请

WO2015175691A1 SYSTEMS AND METHODS FOR VALIDATION OF SEQUENCING RESULTS 审中-公开
标题翻译：用于确认序列结果的系统和方法
公开(公告)号：WO2015175691A1
公开(公告)日：2015-11-19
申请号：PCT/US2015/030615
申请日：2015-05-13
申请人： LIFE TECHNOLOGIES CORPORATION
发明人： BRINZA, Dumitru
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6806 , C12Q1/6858 , C12Q1/6869 , G06F19/22 , C12Q2525/161 , C12Q2525/173
摘要： Systems and method for validation of sequencing results can amplify a target region of a nucleic acid sample in the presence of a primer pool including target specific and variant specific primers. The variant specific primers can include variant specific barcodes and variant specific sequences. An amplicon can be sequenced to determine the sequence of the variant specific barcode. The variant can be identified based on the sequence of the variant specific barcode, and the location of the variant can be determined by mapping the amplicon to a reference sequence.
摘要翻译：用于验证测序结果的系统和方法可以在包含靶特异性和变异特异性引物的引物库的存在下扩增核酸样品的靶区域。变体特异性引物可以包括变体特异性条形码和变体特异性序列。可以对扩增子进行测序以确定变体特异性条形码的序列。可以基于变体特异性条形码的序列来鉴定变体，并且可以通过将扩增子映射到参考序列来确定变体的位置。

84. 发明申请

WO2015170782A1 DEVICES, SYSTEMS AND METHODS FOR LINEARIZATION OF POLYMERS 审中-公开
标题翻译：用于线性化聚合物的装置，系统和方法
公开(公告)号：WO2015170782A1
公开(公告)日：2015-11-12
申请号：PCT/JP2015/063963
申请日：2015-05-08
申请人： OSAKA UNIVERSITY
发明人： TANIGUCHI, Masateru
IPC分类号： C12M1/00
CPC分类号： B01L3/502761 , B01L2200/0663 , B01L2300/0645 , B01L2300/0896 , B01L2400/0415 , B01L2400/086 , B82Y10/00 , B82Y30/00 , C12Q1/6806 , C12Q1/6869 , C12Q2565/631
摘要： The present disclosure provides methods and structures for systems which can linearize and capture a nucleic acid molecule (e.g., DNA) for re-measurement of the nucleic acid molecule or other polymer prior to detection of the polymer. The structures may allow for quick exchange between different samples or other reagents.
摘要翻译：本公开提供了可以在检测聚合物之前将核酸分子（例如DNA）线性化并捕获用于重新测量核酸分子或其它聚合物的系统的方法和结构。这些结构可以允许不同样品或其它试剂之间的快速交换。

85. 发明申请

WO2015130781A9 METHODS, APPARATUSES AND SYSTEMS FOR STABILIZING NANO-ELECTRONIC DEVICES IN CONTACT WITH SOLUTIONS 审中-公开
标题翻译：用于稳定与解决方案联系的纳米电子设备的方法，装置和系统
公开(公告)号：WO2015130781A9
公开(公告)日：2015-11-05
申请号：PCT/US2015017519
申请日：2015-02-25
申请人： UNIV ARIZONA
发明人： LINDSAY STUART , PANG PEI
IPC分类号： G01N27/327
CPC分类号： G01N27/4163 , C12Q1/6869 , G01N27/301 , G01N27/403 , G01N27/48 , G01N33/48721 , C12Q2563/116 , C12Q2563/157
摘要： An apparatus for identifying and/or sequencing one or more molecules including a first sensing electrode and a second sensing electrode separated from the first electrode by a gap. An electrolyte is contained within the gap. The surfaces of the first sensing electrode and the second sensing electrode are functionalized with adaptor molecules for contacting the one or more molecules. The apparatus also includes a reference electrode in contact with the electrolyte and coupled to one of the sensing electrodes.
摘要翻译：一种用于识别和/或排序一个或多个分子的装置，包括通过间隙与第一电极分离的第一感测电极和第二感测电极。间隙内含有电解质。第一感测电极和第二感测电极的表面用用于接触一个或多个分子的衔接分子进行功能化。该装置还包括与电解质接触并连接到一个感测电极的参考电极。

86. 发明申请

WO2015164432A1 DETECTING MUTATIONS AND PLOIDY IN CHROMOSOMAL SEGMENTS 审中-公开
标题翻译：检测染色体部位的突变体和细菌
公开(公告)号：WO2015164432A1
公开(公告)日：2015-10-29
申请号：PCT/US2015/026957
申请日：2015-04-21
申请人： NATERA, INC.
发明人： BABIARZ, Joshua , CONSTANTIN, Tudor Pompiliu , EUBANK, Lane A. , GEMELOS, George , HILL, Matthew Micah , KIRKIZLAR, Huseyin Eser , RABINOWITZ, Matthew , SAKARYA, Onur , SIGURJONSSON, Styrmir , ZIMMERMAN, Bernhard
IPC分类号： C12Q1/68 , G06F19/16
CPC分类号： C12Q1/6869 , C12Q2539/10 , G06F19/16
摘要： The invention provides methods, systems, and computer readable medium for detecting ploidy of chromosome segments or entire chromosomes based on phasing of the alleles and determination of individual and joint probabilities and a best-fit model. In some aspects, the invention provides methods, systems, and computer readable medium for detecting cancer or a chromosomal abnormality in a gestating fetus. The invention also provides methods for detecting circulating tumor nucleic acids based on the level of allelic imbalance present at the polymorphic loci found by ploidy determination. The invention also provides a method for detecting single nucleotide variants based on an estimation of amplification efficiency and error rate and a method for detecting single nucleotide variants based on a median variant allele frequency for a plurality of control samples from individuals.
摘要翻译：本发明提供了用于基于等位基因的定相和单个和联合概率的确定以及最佳拟合模型来检测染色体片段或整个染色体的倍性的方法，系统和计算机可读介质。在一些方面，本发明提供了用于检测胎儿胎儿的癌症或染色体异常的方法，系统和计算机可读介质。本发明还提供了基于通过倍性测定发现的多态性位点处存在的等位基因不平衡水平检测循环肿瘤核酸的方法。本发明还提供了基于扩增效率和错误率的估计来检测单核苷酸变体的方法，以及基于来自个体的多个对照样品的中值变异等位基因频率来检测单核苷酸变体的方法。

87. 发明申请

WO2015162438A1 SEQUENCING METHODS 审中-公开
标题翻译：序列方法
公开(公告)号：WO2015162438A1
公开(公告)日：2015-10-29
申请号：PCT/GB2015/051215
申请日：2015-04-27
申请人： DNA ELECTRONICS LTD
发明人： MORLEY, Daniel
IPC分类号： C12Q1/68 , G06F19/22
CPC分类号： C12Q1/6869 , G06F19/22 , C12Q2535/122
摘要： Described is a method for sequencing a polynucleotide strand by sequencing by synthesis, the method including selecting a predetermined order of nucleotides to provide to a sequencing reaction, the order being selected to correlate with a predicted sequence for the polynucleotide strand;monitoring the reaction to detect incorporation of a nucleotide into a synthesised polynucleotide strand;wherein, in the event that nucleotide incorporation is detected, proceeding to provide the next nucleotide in the predetermined order.In the event that nucleotide incorporation is not detected, the predicted sequence for the polynucleotide strand may be revised and a new predetermined order of nucleotides selected, wherein the new predetermined order is selected to correlate with the revised predicted sequence.In this way, the sequencing reaction provides feedback to modify the order of nucleotides provided, thereby improving the efficiency of the sequencing reaction.
摘要翻译：描述了通过合成测序来测序多核苷酸链的方法，所述方法包括选择预定顺序的核苷酸以提供测序反应，所述顺序被选择为与多核苷酸链的预测序列相关;监测反应以检测将核苷酸掺入合成的多核苷酸链中;其中，在检测到核苷酸掺入的情况下，以预定顺序进行提供下一个核苷酸。在未检测到核苷酸掺入的情况下，多核苷酸链的预测序列可以选择新的预定顺序，其中选择新的预定顺序以与修订的预测序列相关联。以这种方式，测序反应提供反馈以修改提供的核苷酸的顺序，从而提高测序的效率反应。

88. 发明申请

WO2015160895A2 MODIFIED TRANSPOSASES FOR IMPROVED INSERTION SEQUENCE BIAS AND INCREASED DNA INPUT TOLERANCE 审中-公开
标题翻译：用于改进插入序列的修改的传输偏差和增加的DNA输入容忍度
公开(公告)号：WO2015160895A2
公开(公告)日：2015-10-22
申请号：PCT/US2015/025889
申请日：2015-04-15
申请人： ILLUMINA, INC.
发明人： GLOECKNER, Christian , KIA, Amirali , BOMATI, Erin , HE, Molly , GRUNENWALD, Haiying Li , KUERSTEN, Scott , OSOTHPRAROP, Trina Faye , HASKINS, Darin , BURGESS, Joshua , KHANNA, Anupama , SCHLINGMAN, Daniel , VAIDYANATHAN, Ramesh
IPC分类号： C12N9/22
CPC分类号： C12N9/1241 , C12N9/22 , C12N15/1068 , C12Q1/6869 , C12Q2521/507 , C12Q2565/514
摘要： Presented herein are transposase enzymes and reaction conditions for improved fragmentation and tagging of nucleic acid samples, in particular altered transposases and reaction conditions which exhibit improved insertion sequence bias, as well as methods and kits using the same.
摘要翻译：本文提出的是用于改进核酸样品的片段化和标记的转座酶和反应条件，特别是显示出改进的插入序列偏差的改变的转座酶和反应条件，以及使用其的方法和试剂盒。

89. 发明申请

WO2015147867A1 SELF ALIGNED AND SCALABLE NANOGAP POST PROCESSING FOR DNA SEQUENCING 审中-公开
标题翻译：自定义和可扩展的NANOGAP后处理用于DNA测序
公开(公告)号：WO2015147867A1
公开(公告)日：2015-10-01
申请号：PCT/US2014/032210
申请日：2014-03-28
申请人： INTEL CORPORATION
发明人： ELIBOL, Oguz H.
IPC分类号： C12Q1/68 , G01N33/48
CPC分类号： G01N27/3278 , C12Q1/6869 , C23C14/34 , C23C16/45525 , C23C18/1633 , G01N33/48721
摘要： An apparatus including a circuit substrate including a contact in a metal layer; and a transducer including a first electrode deposited on and coupled to a sidewall of the contact and a second electrode coupled to a conductor through which voltage can be applied, wherein the second electrode includes a profile aligned to the sidewall of the contact and separated from the first electrode by a gap. A method including forming a transducer adjacent a contact in a metal layer on a substrate, the transducer including a first electrode disposed on a sidewall of the contact and a second electrode coupled to a conductor through which voltage can be applied, wherein the second electrode includes a profile aligned to the sidewall of the contact and separated from the first electrode by a gap.
摘要翻译：一种包括在金属层中包括接触的电路基板的设备; 以及换能器，其包括沉积在所述触点的侧壁上并且耦合到所述触点的侧壁的第一电极，以及耦合到可以施加电压的导体的第二电极，其中所述第二电极包括与所述触点的侧壁对准的轮廓，第一电极间隙。一种方法，包括在衬底上形成与金属层中的接触相邻的换能器，所述换能器包括设置在所述触点的侧壁上的第一电极和耦合到可以施加电压的导体的第二电极，其中所述第二电极包括该轮廓与接触件的侧壁对准并且与第一电极间隔开间隙。

90. 发明申请

WO2015140535A1 ANALYSIS OF A POLYMER FROM MULTI-DIMENSIONAL MEASUREMENTS 审中-公开
标题翻译：聚合物从多尺度测量中的分析
公开(公告)号：WO2015140535A1
公开(公告)日：2015-09-24
申请号：PCT/GB2015/050776
申请日：2015-03-17
申请人： OXFORD NANOPORE TECHNOLOGIES LIMITED
发明人： DOLAN, Kevin Thomas , WRIGHT, Christopher James
IPC分类号： G06F19/22 , G01N33/487
CPC分类号： C12Q1/6869 , G01N33/48721 , G06F19/22 , G06F19/24 , C12Q2537/165 , C12Q2565/631
摘要： A target sequence of polymer units is estimated from plural series of measurements taken from sequences of polymer units that comprise the target sequence or a complementary sequence. Each measurement is dependent on a k-mer (k polymer units). Models treat the measurements as observations of k-mer states, comprising transition weightings in respect of transitions between successive k-mer states and emission weightings for different measurements being observed. An estimated alignment mapping between the plural series of measurements is derived based on an application of the models to each series. An estimate of the target sequence of polymer units is generated by applying the models, treating the types of k-mer state of each model and the measurements as dimensions of a plural dimensional k-mer state and plural dimensional observations. Constraint of paths through the plural dimensional k-mer states using the derived alignment mapping greatly reduces the required processing.
摘要翻译：通过从包含靶序列或互补序列的聚合物单元序列获得的多个系列测量来估计聚合物单元的靶序列。每个测量取决于k-mer（k聚合物单位）。模型将测量值视为k-mer状态的观测值，其包括关于连续k-mer状态之间的跃迁的转换权重和针对观察到的不同测量的发射权重。基于对每个系列的模型的应用，导出多个测量系列之间的估计的对准映射。通过应用模型，处理每个模型的k-mer状态的类型和测量作为多维k-mer状态和多维观察的维度来生成聚合物单元的靶序列的估计。使用导出的对准映射通过多维k-mer状态的路径的约束大大减少了所需的处理。

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