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    Haplotype Based Generalizable Allele Specific Silencing for Therapy of Cardiovascular Disease
    1.
    发明申请
    Haplotype Based Generalizable Allele Specific Silencing for Therapy of Cardiovascular Disease 审中-公开
    基于单倍型的可聚合等位基因特异性沉默治疗心血管疾病

    公开(公告)号：US20160298114A1

    公开(公告)日：2016-10-13

    申请号：US15075057

    申请日：2016-03-18

    Applicant: The Board of Trustees of the Leland Stanford Junior University

    Inventor： Matthew Wheeler ,  Euan A. Ashley ,  Alexandra Dainis

    IPC: C12N15/113 ,  G06F19/18 ,  G06F19/22 ,  C12Q1/68

    CPC classification number: C12N15/113 ,  A61K48/00 ,  C12N2310/11 ,  C12N2310/14 ,  C12N2310/315 ,  C12N2310/321 ,  C12N2310/341 ,  C12N2310/345 ,  C12N2310/346 ,  C12N2320/34 ,  C12Q1/6883 ,  C12Q2600/156 ,  C12Q2600/178 ,  G16B20/00 ,  G16B30/00 ,  C12N2310/3521

    Abstract: RNAi therapeutic systems in accordance with various embodiments of the invention provide for techniques for silencing expression of deleterious alleles using RNAi therapeutics targeting common variants of alleles. In many embodiments, processes and workflows for identifying common variants of alleles according to repeatedly occurring sets of SNPs are provided. The common variants can be found on genes where deleterious mutations can occur. The common variants can be the basis for targeting with RNAi therapeutics. Thereby, some embodiments of the invention enable efficient and cost saving targeting of common variants using RNAi therapeutics as opposed to individualized deleterious mutation targeting. Several embodiments of the invention further provide for processes for sequencing and phasing subject samples. After sequencing and phasing, some embodiments can apply the common variant targeted RNAi therapeutics to treat deleterious mutations.

    Abstract translation: 根据本发明的各种实施方案的RNAi治疗系统提供使用靶向等位基因的常见变体的RNAi治疗剂沉默有害等位基因表达的技术。 在许多实施例中，提供了根据重复发生的SNP集合来鉴定等位基因的常见变体的过程和工作流程。 常见的变体可以在有可能发生有害突变的基因上发现。 常见的变体可以是用RNAi治疗剂靶向的基础。 因此，本发明的一些实施方案使得能够使用RNAi治疗剂而不是个体化的有害突变靶向来有效且成本节省靶向常见变体。 本发明的几个实施方案进一步提供了用于对受试样品进行测序和定相的方法。 在测序和定相之后，一些实施方案可以应用常见的变体靶向RNAi治疗剂来治疗有害突变。

    Systems and Methods for Automated Single Cell Cytological Classification in Flow
    6.
    发明申请
    Systems and Methods for Automated Single Cell Cytological Classification in Flow 有权

    公开(公告)号：US20210245158A1

    公开(公告)日：2021-08-12

    申请号：US17101528

    申请日：2020-11-23

    Applicant: The Board of Trustees of the Leland Stanford Junior University

    Inventor： Mahdokht Masaeli ,  Euan A. Ashley

    IPC: B01L3/00 ,  G01N15/14 ,  G01N15/10

    Abstract: Systems and methods in accordance with various embodiments of the invention are capable of rapid analysis and classification of cellular samples based on cytomorphological properties. In several embodiments, cells suspended in a fluid medium are passed through a microfluidic channel, where they are focused to a single stream line and imaged continuously. In a number of embodiments, the microfluidic channel establishes flow that enables individual cells to each be imaged at multiple angles in a short amount of time. A pattern recognition system can analyze the data captured from high-speed images of cells flowing through this system and classify target cells. In this way, the automated platform creates new possibilities for a wide range of research and clinical applications such as (but not limited to) point of care services.

    Method and System for Identifying Clinical Phenotypes in Whole Genome DNA Sequence Data
    7.
    发明申请
    Method and System for Identifying Clinical Phenotypes in Whole Genome DNA Sequence Data 审中-公开
    用于鉴定全基因组DNA序列数据中临床表型的方法和系统

    公开(公告)号：US20150261913A1

    公开(公告)日：2015-09-17

    申请号：US14645312

    申请日：2015-03-11

    Applicant: The Board of Trustees of the Leland Stanford, Junior, University

    Inventor： Frederick Dewey ,  Euan A. Ashley ,  James Priest ,  Megan Grove

    IPC: G06F19/18 ,  G06F19/22

    CPC classification number: G16B20/00 ,  G16B30/00

    Abstract: High throughput sequencing has facilitated a precipitous drop in the cost of whole genome human DNA sequencing, prompting predictions of a revolution in medicine via personalization of diagnostic and therapeutic strategies to individual genetics. Disclosed is a comprehensive series of methods for identification of genetic variants and medical genotypes, phasing genetic data and using Mendelian inheritance for quality control, and providing predictive genetic information about risk for rare disease phenotypes and response to pharmacological therapy in single individuals and father-mother-child trios.

    Abstract translation: 高通量测序有助于全基因组人类DNA测序的成本急剧下降，从而通过个体化诊断和治疗策略对个体遗传学进行预测医学革命。 公开了一系列综合遗传变异和医学基因型鉴定方法，分期遗传数据和孟德尔遗传用于质量控制，并提供了关于罕见疾病表型风险的预测遗传信息和对单个个体和父亲母亲的药物治疗反应 小孩三人组

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