公开(公告)号：US10720227B2

公开(公告)日：2020-07-21

申请号：US15159546

申请日：2016-05-19

Applicant: Samsung Electronics Co., Ltd.

Inventor： Garima Agarwal ,  Srikanth Rama Mallavarapu ,  Ajit Shyamsunder Bopardikar ,  Taejin Ahn

IPC: G16H10/60 ,  G16B30/00 ,  G16H10/20 ,  G06N5/02

Abstract: Provided are methods and devices for mutation prioritization, which are helpful in personalized therapy of a patient. Also, provided are methods and devices for generating a disease knowledgebase. Information present in various categories of knowledge sources with respect to a particular association of set may be identified. The identified information is ranked with respect to the disease knowledgebase to find out the most relevant ones for the treatment of a particular Disease/Gene/Mutation of a patient, thereby enabling medical experts to personalize a therapy to be administered to a patient.

公开(公告)号：US10394763B2

公开(公告)日：2019-08-27

申请号：US15158075

申请日：2016-05-18

Applicant: Samsung Electronics Co., Ltd.

Inventor： Mallavarapu Rama Srikanth ,  Ravi Dutt Singh ,  Ajit Shyamsunder Bopardikar ,  Taejin Ahn

IPC: G06F17/00 ,  G06F17/22 ,  G06F16/17 ,  G06F16/16

Abstract: Provided are a method and apparatus for generating a pileup file from a reference-based compression file. The method includes receiving a reference-based compression file comprising a plurality of pieces of read data that are compressed, partially decompressing the plurality of pieces of read data to acquire a differential string associated with the plurality of pieces of read data, and generating the pileup file by decoding the differential string based on a plurality of conversion rules.

公开(公告)号：US20150154348A1

公开(公告)日：2015-06-04

申请号：US14521028

申请日：2014-10-22

Applicant: Samsung Electronics Co., Ltd.

Inventor： Daesoon Son ,  Taejin Ahn ,  Eunjin Lee ,  Jongsuk Chung

IPC: G06F19/18

CPC classification number: G16B20/00

Abstract: A method and apparatus for analyzing genetic data of a subject generates a plurality of bootstrap data sets having binary response variables related to a specific response from the genetic data; determines a first bootstrap data set that represents the bootstrap data sets, based on distributions of the binary response variables; generates permutation null distributions by permutating the first bootstrap data set P (where P is a natural number) times; and calculates an empirical power of the bootstrap data sets by testing respective levels of significance of the bootstrap data sets based on the permutation null distributions.

Abstract translation: 用于分析对象的遗传数据的方法和装置产生具有与遗传数据的特定响应相关的二进制响应变量的多个引导数据集; 基于二进制响应变量的分布，确定表示引导数据集的第一引导数据集; 通过将第一自举数据集P（其中P是自然数）置换为次数来生成置换空分布; 并且通过基于置换空分布测试引导数据集的有效级别来计算引导数据集的经验力。

公开(公告)号：US20150094223A1

公开(公告)日：2015-04-02

申请号：US14476479

申请日：2014-09-03

Applicant: Samsung Electronics Co., Ltd.

Inventor： Eunjin Lee ,  Taejin Ahn

IPC: G06F19/00 ,  G06F19/20 ,  C12Q1/68

Abstract: A method and apparatus for diagnosing cancer by using genetic information, the method comprising acquiring first gene expression data of a subject, for whom cancer is to be diagnosed, for a gene marker set including at least one gene marker; and determining a possibility of a presence of the cancer of the subject by using the acquired first gene expression data and pre-stored second gene expression data of a normal person group and a cancer patient group, wherein the gene marker set includes gene markers such as pyrroline-5-carboxylate reductase 1 (PYCR1), phosphoglycerate dehydrogenase (PHGDH), glutaminase 2 (liver, mitochondrial) (GLS2), and glutaminase (GLS) among others.

Abstract translation: 一种通过使用遗传信息诊断癌症的方法和装置，所述方法包括获取包含至少一个基因标记的基因标记物组的待诊断癌症的受试者的第一基因表达数据; 以及通过使用所获取的第一基因表达数据和正常人群和癌症患者组的预先存储的第二基因表达数据来确定受试者的癌症存在的可能性，其中所述基因标记物组包括基因标记如 吡咯啉-5-羧酸还原酶1（PYCR1），磷酸甘油酸脱氢酶（PHGDH），谷氨酰胺酶2（肝，线粒体）（GLS2）和谷氨酰胺酶（GLS）等。

公开(公告)号：US09690844B2

公开(公告)日：2017-06-27

申请号：US14604433

申请日：2015-01-23

Applicant: Samsung Electronics Co., Ltd.

Inventor： Subhankar Mukherjee ,  Taejin Ahn ,  Ajit S. Bopardikar ,  Anirban Bhaduri ,  Srikanth Rama Mallavarapu

IPC: G06F17/30

CPC classification number: G06F17/30601

Abstract: Methods and devices for clustering a plurality of sub-networks of a larger interaction network using an enhanced hierarchical clustering algorithm are disclosed. The methods provide expression based sub-network generation using differentially expressed markers. The enhanced hierarchical clustering algorithm clusters the generated sub-networks based on a user defined customizable similarity coefficient. The methods use non-Boolean links to cluster similar sub-networks. This provides consideration of indirect relationships among sub-networks. The customizable similarity coefficient enables the methods to be used for diverse applications such as biomarker detection, patient stratification, personalized therapy, drug efficacy prediction, genetic similarity analysis in genetic diseases. The methods enable patient grouping based on the enhanced hierarchical clustering algorithm.

公开(公告)号：US20150213115A1

公开(公告)日：2015-07-30

申请号：US14604433

申请日：2015-01-23

Applicant: Samsung Electronics Co., Ltd.

Inventor： Subhankar Mukherjee ,  Taejin Ahn ,  Ajit S. Bopardikar ,  Anirban Bhaduri ,  Srikanth Rama Mallavarapu

IPC: G06F17/30

CPC classification number: G06F17/30601

Abstract: Methods and devices for clustering a plurality of sub-networks of a larger interaction network using an enhanced hierarchical clustering algorithm are disclosed. The methods provide expression based sub-network generation using differentially expressed markers. The enhanced hierarchical clustering algorithm clusters the generated sub-networks based on a user defined customizable similarity coefficient. The methods use non-Boolean links to cluster similar sub-networks. This provides consideration of indirect relationships among sub-networks. The customizable similarity coefficient enables the methods to be used for diverse applications such as biomarker detection, patient stratification, personalized therapy, drug efficacy prediction, genetic similarity analysis in genetic diseases. The methods enable patient grouping based on the enhanced hierarchical clustering algorithm.

Abstract translation: 公开了使用增强层次聚类算法对较大交互网络的多个子网进行聚类的方法和装置。 该方法提供使用差异表达标记的基于表达的子网生成。 增强层次聚类算法基于用户定义的可定制相似系数对生成的子网进行聚类。 这些方法使用非布尔链接来聚类类似的子网络。 这提供了子网之间间接关系的考虑。 可定制的相似系数使得该方法可用于多种应用，如生物标志物检测，患者分层，个性化治疗，药物功效预测，遗传疾病中的遗传相似性分析。 该方法使得基于增强层次聚类算法的患者分组。