公开(公告)号：US12077823B2

公开(公告)日：2024-09-03

申请号：US17329738

申请日：2021-05-25

申请人： GENinCode Plc

发明人： Matthew Heaton Walls ,  Marta Carrera ,  Jaume Marrugat De La Iglesia ,  Roberto Elosua Llanos

IPC分类号： C12Q1/6883 ,  G16B20/20 ,  G16B40/00 ,  G16H50/30

CPC分类号： C12Q1/6883 ,  G16B20/20 ,  G16B40/00 ,  G16H50/30 ,  C12Q2600/112 ,  C12Q2600/156 ,  C12Q2600/172

摘要： The invention relates to a method for the reclassification of a subject to a more appropriate risk assessment to that obtained using the algorithms for such risk estimation such us but not limited to Framingham, Regicor, Score, Procam or Qrisk based on the presence of different polymorphisms. The invention also relates to a method for determining the risk of suffering a cardiovascular disease by combining the absence or presence of one or more polymorphic markers in a sample from the subject with conventional risk factors for CVD as well as computer-implemented methods for carrying out the risk determination.

公开(公告)号：US20240123029A1

公开(公告)日：2024-04-18

申请号：US18275776

申请日：2022-02-08

申请人： HUMANITAS MIRASOLE S.P.A. ,  HUMANITAS UNIVERSITY ,  OSPEDALE SAN RAFFAELE S.R.L.

发明人： Alberto MANTOVANI ,  Cecilia GARLANDA ,  Barbara BOTTAZZI ,  Elisa VICENZI

IPC分类号： A61K38/17 ,  A61K45/06 ,  A61P31/14 ,  C12Q1/70

CPC分类号： A61K38/178 ,  A61K45/06 ,  A61P31/14 ,  C12Q1/701 ,  C12Q2600/156 ,  C12Q2600/172

摘要： The present invention relates to a molecule for use in the treatment and/or prevention of viral infections caused by highly pathogenic coronaviruses, including Severe Acute Respiratory syndrome Coronavirus 2 (SARS-COV-2), or variants thereof, Severe Acute Respiratory syndrome Coronavirus ((SARS)-COV) and sarbecoviruses, said molecule being a mannose binding lectin (MBL) polypeptide, or a functional fragment, derivative, mutein or variant thereof, or an homologue having a percentage of identity with MBL polypeptide of at least 50, 60, 70, 80 or 90%, preferably for use in the treatment and/or prevention of 2019 Coronavirus disease (COVID-19).

公开(公告)号：US11873480B2

公开(公告)日：2024-01-16

申请号：US15519482

申请日：2015-10-16

申请人： Illumina Cambridge Limited

发明人： Frank J. Steemers ,  Kevin L. Gunderson ,  Fan Zhang ,  Jason Richard Betley ,  Niall Anthony Gormley ,  Wouter Meuleman ,  Jacqueline Weir ,  Avgousta Ioannou ,  Gareth Jenkins ,  Rosamond Jackson ,  Natalie Morrell ,  Dmitry K. Pokholok ,  Steven J. Norberg ,  Molly He ,  Amirali Kia ,  Igor Goryshin ,  Rigo Pantoja

IPC分类号： C12N15/10 ,  C12Q1/6806 ,  C12Q1/6874 ,  C12Q1/6876

CPC分类号： C12N15/1065 ,  C12N15/1082 ,  C12N15/1093 ,  C12Q1/6806 ,  C12Q1/6874 ,  C12Q1/6876 ,  C12Q2600/154 ,  C12Q2600/156 ,  C12Q2600/172 ,  C12N15/1065 ,  C12Q2525/191 ,  C12Q2563/179 ,  C12Q2565/514 ,  C12N15/1093 ,  C12Q2525/191 ,  C12Q2563/179 ,  C12Q2565/514

摘要： Embodiments provided herein relate to methods and compositions for preparing an immobilized library of barcoded DNA fragments of a target nucleic acid, identifying genomic variants, determining the contiguity information, phasing information, and methylation status of the target nucleic acid.

公开(公告)号：US20230366028A1

公开(公告)日：2023-11-16

申请号：US18063931

申请日：2022-12-09

申请人： CEDARS-SINAI MEDICAL CENTER

发明人： Dermot P. MCGOVERN ,  Dalin LI

IPC分类号： C12Q1/6883 ,  G16B20/20 ,  C12Q1/6816

CPC分类号： C12Q1/6883 ,  G16B20/20 ,  C12Q1/6816 ,  C12Q2600/156 ,  C12Q2600/172 ,  C12Q2600/118

摘要： The present invention describes a method of prognosing high or low probability of developing an inflammatory bowel disease (IBD) in a subject and a method of diagnosing an inflammatory bowel disease (IBD) in a subject. The invention further provides for a method of identifying genes/genetic loci associated with a disease condition, such as IBD, CD and/or UC.

公开(公告)号：US11814684B2

公开(公告)日：2023-11-14

申请号：US17215307

申请日：2021-03-29

申请人： Celera Corporation

发明人： Olga Iakoubova ,  James J. Devlin ,  Carmen Tong ,  Charles Rowland

IPC分类号： C12Q1/6883 ,  G01N33/68

CPC分类号： C12Q1/6883 ,  G01N33/6893 ,  C12Q2600/106 ,  C12Q2600/118 ,  C12Q2600/136 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/16 ,  C12Q2600/172 ,  G01N2333/914 ,  G01N2500/04 ,  G01N2800/32 ,  G01N2800/324 ,  G01N2800/329 ,  Y10T436/143333

摘要： The present invention provides compositions and methods based on genetic polymorphisms that are associated with coronary heart disease (particularly myocardial infarction), aneurysm/dissection, and/or response to drug treatment, particularly statin treatment. For example, the present invention relates to nucleic acid molecules containing the polymorphisms, variant proteins encoded by these nucleic acid molecules, reagents for detecting the polymorphic nucleic acid molecules and variant proteins, and methods of using the nucleic acid molecules and proteins as well as methods of using reagents for their detection.

公开(公告)号：US11649503B2

公开(公告)日：2023-05-16

申请号：US17091507

申请日：2020-11-06

申请人： National Jewish Health

发明人： David A. Schwartz ,  Max Seibold

IPC分类号： C12Q1/6883

CPC分类号： C12Q1/6883 ,  C12Q2600/118 ,  C12Q2600/136 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/172 ,  G01N2333/4725 ,  G01N2800/12

摘要： The invention provides diagnostic and therapeutic targets for pulmonary disease, in particular, fibrotic lung disease. The inventors have found that a genetic variant MUC5B gene is associated with increased expression of the gene, increased risk of developing a pulmonary disease, and an improved prognosis and survival among those developing the pulmonary disease.

公开(公告)号：US20190218612A1

公开(公告)日：2019-07-18

申请号：US15899811

申请日：2018-02-20

申请人： The Children's Hospital of Philadelphia

发明人： Hakon Hakonarson ,  Jonathan Bradfield ,  Marcin Imielinski ,  Struan F.A. Grant

IPC分类号： C12Q1/6883

CPC分类号： C12Q1/6883 ,  C12Q2600/136 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/172

摘要： Compositions and methods for the detection and treatment of inflammatory bowel disease are provided.

公开(公告)号：US20190194759A1

公开(公告)日：2019-06-27

申请号：US16288416

申请日：2019-02-28

申请人： Natera, Inc.

发明人： Joshua BABIARZ ,  Tudor Pompiliu CONSTANTIN ,  Lane A. EUBANK ,  George GEMELOS ,  Matthew Micah HILL ,  Huseyin Eser KIRKIZLAR ,  Matthew RABINOWITZ ,  Onur SAKARYA ,  Styrmir SIGURJONSSON ,  Bernhard ZIMMERMANN

IPC分类号： C12Q1/6886 ,  G16B40/00 ,  G16B25/00 ,  G16B15/00 ,  G06N20/00 ,  G06N7/00 ,  G16H50/20 ,  G16H10/40 ,  C12Q1/6869

CPC分类号： C12Q1/6886 ,  C12Q1/6869 ,  C12Q2539/10 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/16 ,  C12Q2600/172 ,  G06F19/00 ,  G06N7/005 ,  G06N20/00 ,  G16B15/00 ,  G16B25/00 ,  G16B40/00 ,  G16H10/40 ,  G16H50/20

摘要： The invention provides methods, systems, and computer readable medium for detecting ploidy of chromosome segments or entire chromosomes, for detecting single nucleotide variants and for detecting both ploidy of chromosome segments and single nucleotide variants. In some aspects, the invention provides methods, systems, and computer readable medium for detecting cancer or a chromosomal abnormality in a gestating fetus.

公开(公告)号：US20190183873A1

公开(公告)日：2019-06-20

申请号：US16286878

申请日：2019-02-27

申请人： Vanda Pharmaceuticals Inc.

发明人： Curt D. Wolfgang ,  Mihael H. Polymeropoulos

IPC分类号： A61K31/454 ,  C12Q1/6883 ,  A61K31/519

CPC分类号： A61K31/454 ,  A61K31/519 ,  C12Q1/6883 ,  C12Q2600/106 ,  C12Q2600/156 ,  C12Q2600/172

摘要： The present invention relates to methods for the identification of genetic polymorphisms that may be associated with a risk for QT prolongation after treatment with iloperidone and related methods of administering iloperidone to patients with such polymorphisms.

公开(公告)号：US20180334658A1

公开(公告)日：2018-11-22

申请号：US15794788

申请日：2017-10-26

申请人： The University of North Carolina at Chapel Hill

发明人： Darrel W. Stafford ,  Tao Li

IPC分类号： C12N9/04 ,  C12N9/50 ,  C12Q1/6883 ,  C12N9/88

CPC分类号： C12N9/0006 ,  C12N9/50 ,  C12N9/88 ,  C12Q1/6883 ,  C12Q2600/106 ,  C12Q2600/156 ,  C12Q2600/158 ,  C12Q2600/172 ,  C12Y101/04001 ,  C12Y304/21006 ,  C12Y401/0109

摘要： The present invention provides a stable cell line overexpressing a recombinant vitamin K-dependent (VKD) protein and both a recombinant vitamin K epoxide reductase (VKOR) and a recombinant vitamin K dependent gamma carboxylase (VKGC), wherein the amount of fully carboxylated VKD protein produced in the cell is increased 10% as compared to the amount of fully carboxylated VKD protein produced in the cell in the absence of the recombinant VKOR and the recombinant VKGC.