公开(公告)号：US20160357902A1

公开(公告)日：2016-12-08

申请号：US15072671

申请日：2016-03-17

Applicant: Hitachi, Ltd.

Inventor： Tomohiro YASUDA

IPC: G06F19/14

CPC classification number: G06F19/14

Abstract: According to the present invention, a phylogenetic tree can be created on the basis of frequency data regarding a large number of mutations detected from the samples of a cancer. Each sample to be analyzed contains a mixture of plural clones having different genomes. Mutations having about the same frequencies are grouped to make plural groups, and an analysis is executed based on data listing the mutation frequencies of individual groups (called mutation group frequency data). It is assumed that pairs of clones corresponding respectively to mutation groups such that frequencies of one group is equal to or greater than that of another in all the samples have parent-child relations, and a graph structure having the clones as vertices and the parent-child relations as edges is created. In this graph, parent-child relations contradictory to the mutation group frequency data are removed, and a clone to become a parent is selected in consideration of correlation coefficients among the mutation group frequencies in the samples.

Abstract translation: 根据本发明，可以基于关于从癌症样品检测到的大量突变的频率数据来创建系统发生树。 待分析的每个样品含有具有不同基因组的多个克隆的混合物。 具有大约相同频率的突变被分组成多个组，并且基于列出各组的突变频率的数据（称为突变组频率数据）执行分析。 假设分别对应于突变组的克隆对，使得在所有样本中，一组的频率等于或大于另一组的频率具有亲子关系，并且具有克隆作为顶点的图形结构， 子关系作为边创建。 在该图中，与突变群体频率数据矛盾的亲子关系被去除，考虑到样本中突变群体频率之间的相关系数，选择成为亲本的克隆。

公开(公告)号：US20250166825A1

公开(公告)日：2025-05-22

申请号：US18929245

申请日：2024-10-28

Applicant: Hitachi, Ltd.

Inventor： Sachiho ABE ,  Tomohiro YASUDA

IPC: G16H50/20

Abstract: A pathogenicity determination device of the present disclosure includes: an input device that receives inputs of genetic mutation information indicating a genetic mutation, and genetic mutation-related information related to the genetic mutation information; a processor that estimates a first score related to presence or absence of a pathological significance of the genetic mutation and a second score related to strength or sufficiency of evidence related to the genetic mutation, based on the genetic mutation information and the genetic mutation-related information; and an output device that outputs the estimated first score and the estimated second score.

公开(公告)号：US20240331804A1

公开(公告)日：2024-10-03

申请号：US18595044

申请日：2024-03-04

Applicant: Hitachi, Ltd.

Inventor： Tomohiro YASUDA

IPC: G16B30/10 ,  G16B40/00

CPC classification number: G16B30/10 ,  G16B40/00

Abstract: Labeled positions alignment capable of dealing with apparent expansion and contraction of a target nucleic acid sequence is performed. An information processing device calculates first ratios of intervals between partial sequences in a reference nucleic acid sequence, constructs an index indicating a combination of the first ratios and information indicating a position of a partial sequence in the nucleic acid sequence corresponding to the combination of the first ratios, calculates second ratios of intervals between partial sequences in a target nucleic acid sequence, extracts a combination of the first ratios corresponding to a combination of the second ratios based on a comparison result between the combination of the second ratios and the combination of the first ratios indicated by the index, and outputs information indicating a position of a partial sequence corresponding to the extracted combination of the first ratios in the reference nucleic acid sequence.