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1. 发明申请

US20150370959A9 Phased Whole Genome Genetic Risk In A Family Quartet 审中-公开
标题翻译：家族四重奏的基因全基因组遗传风险
公开(公告)号：US20150370959A9
公开(公告)日：2015-12-24
申请号：US13445925
申请日：2012-04-13
申请人： Frederick Dewey , Euan Ashley , Carlos Daniel Bustamante , Atul Butte , Jake Byrnes , Rong Chen
发明人： Frederick Dewey , Euan Ashley , Carlos Daniel Bustamante , Atul Butte , Jake Byrnes , Rong Chen
IPC分类号： G06F19/12
CPC分类号： G06F19/12 , G06F19/18 , G06F19/22 , G06F19/24 , G06N5/02
摘要： An embodiment of the present invention is a methodology for prioritizing variants relevant to inherited Mendelian (“single gene”) disease syndromes according to disease phenotype, gene, and variant level information.
摘要翻译：本发明的一个实施方案是根据疾病表型，基因和变异水平信息来优先考虑与遗传的孟德尔（“单基因”）疾病综合征有关的变体的方法。

2. 发明申请

US20130080068A1 Phased Whole Genome Genetic Risk In A Family Quartet 审中-公开
标题翻译：家族四重奏的基因全基因组遗传风险
公开(公告)号：US20130080068A1
公开(公告)日：2013-03-28
申请号：US13445925
申请日：2012-04-13
申请人： Frederick Dewey , Euan Ashley , Carlos Daniel Bustamante , Atul Butte , Jake Byrnes , Rong Chen
发明人： Frederick Dewey , Euan Ashley , Carlos Daniel Bustamante , Atul Butte , Jake Byrnes , Rong Chen
IPC分类号： G06F19/12
CPC分类号： G06F19/12 , G06F19/18 , G06F19/22 , G06F19/24 , G06N5/02
摘要： An embodiment of the present invention is a methodology for prioritizing variants relevant to inherited Mendelian (“single gene”) disease syndromes according to disease phenotype, gene, and variant level information.
摘要翻译：本发明的一个实施方案是根据疾病表型，基因和变异水平信息来优先考虑与遗传的孟德尔（单基因）疾病综合征相关的变体的方法。

3. 发明申请

US20150370963A9 Phased Whole Genome Genetic Risk In A Family Quartet 审中-公开
标题翻译：家族四重奏的基因全基因组遗传风险
公开(公告)号：US20150370963A9
公开(公告)日：2015-12-24
申请号：US13445923
申请日：2012-04-13
申请人： Frederick Dewey , Euan Ashley , Matthew Wheeler , Michael Snyder , Carlos Bustamante
发明人： Frederick Dewey , Euan Ashley , Matthew Wheeler , Michael Snyder , Carlos Bustamante
IPC分类号： G06F19/24 , G06F19/18
CPC分类号： G06F19/12 , G06F19/18 , G06F19/22 , G06F19/24 , G06N5/02
摘要： In an embodiment of the present invention, three novel human reference genome sequences were developed based on the most common population-specific DNA sequence (“major allele”). Methods were developed for their integration into interpretation pipelines for highthroughput whole genome sequencing.
摘要翻译：在本发明的一个实施方案中，基于最常见的群体特异性DNA序列（“主要等位基因”）开发了三种新的人参照基因组序列。开发了将其整合到用于高通量全基因组测序的解释管道中的方法。

4. 发明申请

US20130073217A1 Phased Whole Genome Genetic Risk In A Family Quartet 审中-公开
标题翻译：家族四重奏的基因全基因组遗传风险
公开(公告)号：US20130073217A1
公开(公告)日：2013-03-21
申请号：US13445923
申请日：2012-04-13
申请人： Frederick Dewey , Euan Ashley
发明人： Frederick Dewey , Euan Ashley
IPC分类号： G06F19/24 , G06F19/18
CPC分类号： G06F19/12 , G06F19/18 , G06F19/22 , G06F19/24 , G06N5/02
摘要： In an embodiment of the present invention, three novel human reference genome sequences were developed based on the most common population-specific DNA sequence (“major allele”). Methods were developed for their integration into interpretation pipelines for highthroughput whole genome sequencing.
摘要翻译：在本发明的一个实施方案中，基于最常见的群体特异性DNA序列（主要等位基因）开发出三种新的人参照基因组序列。开发了将其整合到用于高通量全基因组测序的解释管道中的方法。

5. 发明申请

US20050152836A1 Diagnostic markers and pharmacological targets in heart failure and related reagents and methods of use thereof 审中-公开
标题翻译：心力衰竭中的诊断标志物和药理学靶标及相关试剂及其使用方法
公开(公告)号：US20050152836A1
公开(公告)日：2005-07-14
申请号：US10850941
申请日：2004-05-21
申请人： Euan Ashley , Mary Chen , Thomas Quertermous , David Xing-Fei Deng , Anya Tsalenko , Amir Ben-dor , Laurakay Bruhn , Zohar Yakhini
发明人： Euan Ashley , Mary Chen , Thomas Quertermous , David Xing-Fei Deng , Anya Tsalenko , Amir Ben-dor , Laurakay Bruhn , Zohar Yakhini
IPC分类号： A61K38/18 , A61K51/00 , C07K16/46 , C12Q1/68 , G01N33/53 , G01N33/566 , G01N33/567 , G01N33/68
CPC分类号： G01N33/6893 , A61K38/1709 , A61K47/6843 , G01N2333/912 , G01N2333/916 , G01N2800/325
摘要： The invention identifies genes whose expression is upregulated or downregulated following mechanical offloading in subjects with heart failure. The invention provides compositions comprising a targeting agent conjugated to a functional moiety, wherein the targeting agent selectively binds to a polypeptide encoded by one of these genes. The functional moiety can be an imaging agent, therapeutic agent, etc. The invention further provides methods for providing diagnostic or prognostic information related to heart failure involving detecting expression or activity of an expression product of one or more of the identified genes. The invention further provides diagnostic and therapeutic methods comprising detecting or administering an apelin peptide to a subject.
摘要翻译：本发明鉴定在具有心力衰竭的受试者中机械卸载后其表达上调或下调的基因。本发明提供了包含与功能部分缀合的靶向剂的组合物，其中所述靶向剂选择性地结合由这些基因之一编码的多肽。功能部分可以是成像剂，治疗剂等。本发明还提供了提供与心力衰竭有关的诊断或预后信息的方法，其涉及检测一种或多种所鉴定的基因的表达产物的表达或活性。本发明进一步提供诊断和治疗方法，其包括向受试者检测或施用apelin肽。

6. 发明申请

US20100234916A1 System and method for ventricular pace timing based on isochrones 审中-公开
标题翻译：基于等时线的心室起搏时间的系统和方法
公开(公告)号：US20100234916A1
公开(公告)日：2010-09-16
申请号：US12722297
申请日：2010-03-11
申请人： Robert Turcott , Euan Ashley
发明人： Robert Turcott , Euan Ashley
IPC分类号： A61N1/08 , A61N1/362
CPC分类号： A61N1/368 , A61N1/3682 , A61N1/3684 , A61N1/37247
摘要： The present invention provides a system and method for displaying ventricular timing events and for determining optimal ventricular pace timing based on ventricular synchrony and loading conditions in order to improve the hemodynamic performance of patients.
摘要翻译：本发明提供了一种用于显示心室定时事件并且基于心室同步和负载条件来确定最佳心室起搏时间的系统和方法，以便改善患者的血液动力学性能。

7. 发明申请

US20130080069A1 Method to Estimate Likelihood of Pathogenicity of Synonymous and Non-coding Variants Across a Genome 审中-公开
标题翻译：估计基因组同义和非编码变异病原性的可能性的方法
公开(公告)号：US20130080069A1
公开(公告)日：2013-03-28
申请号：US13486462
申请日：2012-06-01
申请人： Sergio Pablo Sánchez Cordero , Matthew Wheeler , Euan Ashley
发明人： Sergio Pablo Sánchez Cordero , Matthew Wheeler , Euan Ashley
IPC分类号： G06F19/16
CPC分类号： G16B15/00 , G16B30/00
摘要： A method according to an embodiment of the present invention determines putative changes in splicing, mRNA structure, and protein synthesis. For each of these concepts, scoring algorithms are disclosed that can be used in a genome-wide scale. The described methods provide a pipeline that can be used to analyze the biological effects of SNPs generally, both synonymous and non-synonymous.
摘要翻译：根据本发明的实施方案的方法确定剪接，mRNA结构和蛋白质合成的推定变化。对于每个这些概念，公开了可以在全基因组范围内使用的评分算法。所描述的方法提供了可以用于分析SNP的生物学效应的管道，通常是同义的和非同义的。

8. 发明申请

US20070253901A1 Atherosclerosis genes and related reagents and methods of use thereof 审中-公开
标题翻译：动脉粥样硬化基因及相关试剂及其使用方法
公开(公告)号：US20070253901A1
公开(公告)日：2007-11-01
申请号：US11412437
申请日：2006-04-27
申请人： David Deng , Anya Tsalenko , Amir Ben-Dor , Zohar Yakhini , Thomas Quertermous , Euan Ashley , Eugene Yang , Raymond Tabibiazar , Philip Tsao
发明人： David Deng , Anya Tsalenko , Amir Ben-Dor , Zohar Yakhini , Thomas Quertermous , Euan Ashley , Eugene Yang , Raymond Tabibiazar , Philip Tsao
IPC分类号： A61K51/00 , A61K49/10 , C07K16/46 , C07K14/54
CPC分类号： G01N33/6893 , G01N2800/323
摘要： The invention provides genes (DEA genes) that are differentially expressed in atherosclerotic lesions and polypeptides encoded by these genes. The invention provides compositions comprising a targeting agent conjugated to a functional moiety, wherein the targeting agent selectively binds to a polypeptide encoded by one a DEA gene. The functional moiety can be an imaging agent, therapeutic agent, etc. The invention further provides methods for providing diagnostic or prognostic information related to atherosclerosis involving detecting expression or activity of an expression product of one or more of the DEA genes. The invention further provides therapeutic methods comprising administering to a subject a composition comprising a targeting agent conjugated to a functional moiety that binds selectively binds to a polypeptide encoded by a DEA gene.
摘要翻译：本发明提供在动脉粥样硬化病变和由这些基因编码的多肽中差异表达的基因（DEA基因）。本发明提供了包含与功能部分缀合的靶向剂的组合物，其中所述靶向剂选择性地结合由DEA基因之一编码的多肽。功能部分可以是显像剂，治疗剂等。本发明还提供了提供涉及检测一种或多种DEA基因的表达产物的表达或活性的动脉粥样硬化相关的诊断或预后信息的方法。本发明进一步提供治疗方法，包括向受试者施用包含与功能性部分缀合的靶向试剂的组合物，其结合选择性结合由DEA基因编码的多肽。

9. 发明申请

US20070174019A1 Network-based approaches to identifying significant molecules based on high-throughput data analysis 审中-公开
标题翻译：基于网络的基于高通量数据分析识别重要分子的方法
公开(公告)号：US20070174019A1
公开(公告)日：2007-07-26
申请号：US11264259
申请日：2005-10-31
申请人： Aditya Vailaya , Allan Kuchinsky , Euan Ashley , Jennifer King , Rossella Ferrara , Thomas Quertermous
发明人： Aditya Vailaya , Allan Kuchinsky , Euan Ashley , Jennifer King , Rossella Ferrara , Thomas Quertermous
IPC分类号： G06F17/18
CPC分类号： G16B5/00 , G16B20/00
摘要： Methods, systems and computer readable media for network-based identification of significant molecules, for which at least one biological network is provided to include significant molecules to be identified. A node in the network is identified. A member-specific sub-network containing nodes connected to the identified node is identified for L levels of nearest neighbors, wherein L is a positive integer, and a connectivity score is calculated for the molecule represented by the identified node based on significance scores of each node contained in the member-specific sub-network. These steps are repeated for other nodes in the network. Methods, systems and computer readable media for network-based identification of significant molecules, for which at least one biological network is provided to include significant molecules to be identified, a data set including data values characterizing molecules experimented on is provided, and an interesting list of molecules is provided as a subset of the molecules from the dataset, the interesting list including significance scores for the molecules in the list. Such identification includes identifying a node in the network; identifying a member-specific sub-network containing nodes connected to the identified node for L levels of nearest neighbors, wherein L is a positive integer; extracting the member-specific sub-network from the network; and repeating these steps for each of the other nodes in the network that corresponds to a molecule in the interesting list.
摘要翻译：用于基于网络识别重要分子的方法，系统和计算机可读介质，其中提供至少一个生物网络以包括要识别的重要分子。识别网络中的节点。针对L个最近邻的L个级别识别包含连接到所识别节点的节点的成员特定子网络，其中L是正整数，并且基于由所识别的节点表示的分子计算连通性得分，基于每个节点包含在成员特定子网中。对网络中的其他节点重复这些步骤。提供用于基于网络识别显着分子的方法，系统和计算机可读介质，其中提供至少一个生物网络以包括要识别的重要分子，提供包括表征实验分子的数据值的数据集，以及有趣的列表的分子作为来自数据集的分子的子集提供，有趣的列表包括列表中分子的显着性得分。这种识别包括识别网络中的节点; 识别包含连接到所识别的节点的节点的成员特定子网络用于最近邻的L级，其中L是正整数; 从网络中提取成员专用子网; 并且对于与有趣列表中的分子相对应的网络中的每个其他节点重复这些步骤。

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