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.