公开(公告)号：EP3583529B1

公开(公告)日：2024-08-07

申请号：EP18706692.3

申请日：2018-02-15

IPC分类号： G16H30/40 ,  G16B50/10 ,  G16B50/30 ,  G16H50/20 ,  G16H50/70 ,  G16B50/00 ,  G16H70/60 ,  G16B45/00

CPC分类号： G16H30/40 ,  G16H70/60 ,  G16B45/00 ,  G16B50/00 ,  G16B50/10 ,  G16B50/30 ,  G16H50/70 ,  G16H50/20

公开(公告)号：EP3398102B1

公开(公告)日：2024-02-21

申请号：EP15911664.9

申请日：2015-12-31

发明人： MACKINNON, Stephen Scott ,  MORAYNISS, Leonard David ,  MITAKIDIS, Jason ,  GWADRY, Fuad G.

IPC分类号： G16B20/30 ,  G16B35/00 ,  G16B50/10 ,  G16B50/30

公开(公告)号：EP3404568B1

公开(公告)日：2023-07-12

申请号：EP18173025.0

申请日：2018-05-17

发明人： NOVÁCEK, Vit ,  COSTABELLO, Luca ,  VANDENBUSSCHE, Pierre-Yves ,  MITSUISHI, Yutaka

IPC分类号： G16B40/00 ,  G16B50/00 ,  G16B40/20 ,  G16B50/10 ,  G16B50/20 ,  G16B50/30 ,  G16H10/00 ,  G16B99/00

公开(公告)号：EP4156194A1

公开(公告)日：2023-03-29

申请号：EP22190841.1

申请日：2015-01-14

申请人： Fabric Genomics, Inc. ,  University of Utah

发明人： SINGLETON, Marc ,  REESE, Martin ,  EILBECK, Karen ,  YANDELL, Mark

IPC分类号： G16B20/00 ,  G16B50/10

摘要： The present disclosure provides methods and systems for prioritizing phenotype-causing genomic variants. The methods include using variant prioritization analyses and in combination with biomedical ontologies using a sophisticated re-ranking methodology to re-rank these variants based on phenotype information. The methods can be useful in any genomics study and diagnostics; for example, rare and common disease gene discovery, tumor growth mutation detection, drug responder studies, metabolic studies, personalized medicine, agricultural analysis, and centennial analysis.

公开(公告)号：EP3292220B1

公开(公告)日：2022-07-13

申请号：EP16790116.4

申请日：2016-05-05

发明人： HELGESEN, Scott, E. ,  MILLETTI, Marco ,  LAKATA, Mark, T. ,  LABRENZ, James, N.

IPC分类号： G16B50/30 ,  G16B50/10 ,  G16B30/00

公开(公告)号：EP3782159A1

公开(公告)日：2021-02-24

申请号：EP19719260.2

申请日：2019-04-18

申请人： Koninklijke Philips N.V.

发明人： LING, Yuan ,  AL HASAN, Sheikh, Sadid ,  FARRI, Oladimeji, Feyisetan ,  LIU, Junyi

IPC分类号： G16B40/30 ,  G16B50/10

公开(公告)号：EP3534368B1

公开(公告)日：2020-09-16

申请号：EP19167102.3

申请日：2012-12-07

申请人： Five3 Genomics, LLC

发明人： VASKE, Charles Joseph ,  SANBORN, John Zachary ,  BENZ, Stephen

IPC分类号： G16B45/00 ,  G06T3/40 ,  G09G5/373 ,  G16B30/00 ,  G16B50/10

公开(公告)号：EP3550568A1

公开(公告)日：2019-10-09

申请号：EP19167464.7

申请日：2019-04-05

申请人： Tata Consultancy Services Limited

发明人： JOSEPH, Thomas ,  RAO, Aditya ,  SIVADASAN, Naveen ,  VANGALA, Saipradeep Govindarkrishnan ,  KOTTE, Sujatha ,  AMERICAN, Rajgopal

IPC分类号： G16B50/10 ,  G16B35/10 ,  G16B45/00

摘要： This disclosure relates generally to method and system for graph convolution based gene prioritization on heterogeneous networks. The method includes obtaining a set of entities for human rare diseases from one or more sources containing rare diseases, genes, phenotypes for rare diseases and biological pathways and constructing an initial heterogeneous network using each of an entity from the set of entities, the initial heterogeneous network applying Graph Convolution-based Association Scoring (GCAS) to the initial heterogeneous network to derive inferred associations and creating a Heterogeneous Association Network for Rare Diseases (HANRD) by adding the inferred associations to the initial heterogeneous network and generating a prioritized set of genes for an input query being received in the HANRD.

公开(公告)号：EP4392977A1

公开(公告)日：2024-07-03

申请号：EP22793858.6

申请日：2022-10-08

申请人： Eptiva Therapeutics Ltd.

发明人： FIELD, Mark J.

IPC分类号： G16B5/00 ,  G16B50/10 ,  G16C20/00 ,  G16H20/10

CPC分类号： G16B5/00 ,  G16H20/10 ,  G16H10/20 ,  G16B50/20 ,  G16H70/40

公开(公告)号：EP3701534B1

公开(公告)日：2024-04-10

申请号：EP18868620.8

申请日：2018-10-17

发明人： COLAVIN, Alexandre ,  ARAYA, Carlos, L. ,  REUTER, Jason, A.

IPC分类号： G16B20/20 ,  G16B50/10