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    • 5. 发明申请
    • SYSTEMATIC SCREENING AND MAPPING OF REGULATORY ELEMENTS IN NON-CODING GENOMIC REGIONS, METHODS, COMPOSITIONS, AND APPLICATIONS THEREOF
    • 非编码基因组区域的调控元件的系统筛选和图谱,方法,组合物及其应用
    • WO2018064208A1
    • 2018-04-05
    • PCT/US2017/053795
    • 2017-09-27
    • ENGREITZ, JesseLANDER, Eric S.FULCO, CharlesTHE BROAD INSTITUTE, INC.PRESIDENT AND FELLOWS OF HARVARD COLLEGE
    • ENGREITZ, JesseLANDER, Eric S.FULCO, Charles
    • A61K48/00C12N15/10
    • The application relates to methods for identifying putative regulatory elements that regulates a gene, comprising: obtaining a measure of intrinsic activity of a plurality of genomic elements; obtaining a measure of proximity between each of the genomic elements and the gene; scoring a predicted impact of each of the genomic elements on the gene as a function of the measure of intrinsic activity and the measure of proximity, wherein a plurality of predicted impacts scored are ranked to identify at least one genomic element as a putative regulatory element that regulates the gene; and optionally, training, optimizing, and/or validating the scoring of predicted impact using experimental or computational data describing functional interactions between the genomic elements and the gene. The application also relates to methods for identification of transcriptional enhancers and repressors regulating a gene associated with an agricultural trait of interest in plants or a disease phenotype in mammalians.
    • 本申请涉及用于鉴定调控基因的推定调节元件的方法,其包括:获得多种基因组元件的内在活性的量度; 获得每个基因组元件与基因之间的接近度量度; 对作为内在活性度量和邻近性度量的函数的基因组中的每个基因组元素的预测影响进行评分,其中对多个预测的影响评分进行排序以将至少一个基因组元件鉴定为推定的调控元件, 调节基因; 并且可选地,使用描述基因组元件和基因之间的功能性相互作用的实验或计算数据来训练,优化和/或验证对预测影响的评分。 本申请还涉及用于鉴定转录增强子和阻遏物的方法,所述转录增强子和阻遏物调节与哺乳动物中植物感兴趣的农业性状或哺乳动物疾病表型相关的基因。
    • 6. 发明申请
    • SYSTEMS AND METHODS FOR DETERMINING RELATIVE ABUNDANCES OF BIOMOLECULES
    • 确定生物分子相对丰度的系统和方法
    • WO2017075292A1
    • 2017-05-04
    • PCT/US2016/059230
    • 2016-10-27
    • THE BROAD INSTITUTE, INC.MASSACHUSETTS INSTITUTE OF TECHNOLOGY
    • REGEV, AvivLANDER, Eric S.CLEARY, BrianCONG, Le
    • G06F19/24G06N3/08G06F15/18
    • G06N3/08G06F19/20G06F19/24
    • The present invention relates to genomic informatics and gene-expression profiling. Gene-expression profiles provide complex molecular fingerprints regarding the relative state of a cell or tissue. Similarities in gene-expression profiles between organic states provide molecular taxonomies, classification, and diagnostics. Similarities in gene-expression profiles resulting from various external perturbations reveal functional similarities between these perturbagens, of value in pathway and mechanism-of-action elucidation. Similarities in gene-expression profiles between organic and induced states may identify clinically-effective therapies. Systems and methods herein provide for the measurement of relative gene abundances, including unbiased selection of and construction of probes and targets designed and methods for using known properties of sparsity of measurements to reach gene abundances.
    • 本发明涉及基因组信息学和基因表达谱。 基因表达谱提供关于细胞或组织的相对状态的复杂分子指纹。 基因表达谱在有机状态之间的相似性提供了分子分类,分类和诊断。 由各种外部扰动引起的基因表达谱的相似性揭示了这些干扰因子之间的功能相似性,通路中的价值和作用机制阐明。 有机状态和诱导状态之间的基因表达谱的相似性可以确定临床上有效的治疗方法。 本文中的系统和方法提供了相对基因丰度的测量,包括设计的探针和靶的无偏选择和构建以及使用测量的稀疏性的已知性质以达到基因丰度的方法。