公开(公告)号：US20170046478A1

公开(公告)日：2017-02-16

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: G06F19/22 ,  G06N5/02 ,  G06F19/00 ,  G06F17/30

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.

Abstract translation: 提供了用于突变优先化的方法和装置，其有助于患者的个性化治疗。 此外，提供了用于产生疾病知识库的方法和装置。 可以确定在各种知识来源中存在关于<疾病，基因，突变>集合的特定关联的信息。 所识别的信息相对于疾病知识库进行排名，以找出用于治疗患者的特定疾病/基因/突变的最相关的信息，从而使医学专家能够个性化要施用于患者的治疗。

公开(公告)号：US20160342615A1

公开(公告)日：2016-11-24

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: G06F17/30

CPC classification number: G06F16/1724 ,  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.

Abstract translation: 提供了一种用于从基于参考的压缩文件生成堆积文件的方法和装置。 该方法包括：接收基于压缩的多个读取数据的基于参考的压缩文件，部分解压缩多条读取数据以获取与多条读取数据相关联的差分字符串，并产生堆积 文件通过基于多个转换规则解码差分字符串。