公开(公告)号：US20230132281A1

公开(公告)日：2023-04-27

申请号：US17760490

申请日：2021-02-16

申请人： RHODE ISLAND HOSPITAL

发明人： Sean F. MONAGHAN ,  Alger M. FREDERICKS

IPC分类号： C12Q1/689 ,  C12Q1/6883 ,  G16B30/00 ,  G16B40/30

摘要： Deep RNA sequencing is a technology that provides an initial diagnostic for sepsis that can also monitor the indicia of treatment and recovery (bacterial counts reduce, physiology returns to steady-state). The invention can be used for many other hospital conditions, particularly those needing an intensive care unit stay with the attendant risk of bacterial infection, such as trauma, stroke, myocardial infarction, or major surgery.

公开(公告)号：US11574702B2

公开(公告)日：2023-02-07

申请号：US16225789

申请日：2018-12-19

申请人： George Mason University

发明人： Mohsin Saleet Jafri ,  Matthew McCoy

IPC分类号： G16B20/20 ,  C12Q1/6827 ,  C12Q1/6883 ,  G16B10/00 ,  G16B35/00 ,  G16B40/20 ,  G16B50/50 ,  G16B50/10 ,  G16B5/20 ,  G16B40/30 ,  G16B20/00

摘要： The present disclosure describes methods for determining the functional consequences of mutations. The methods include the use of machine learning to identify and quantify features of all atom molecular dynamics simulations to obtain the disruptive severity of genetic variants on molecular function.

公开(公告)号：US11568957B2

公开(公告)日：2023-01-31

申请号：US16460420

申请日：2019-07-02

申请人： Regeneron Pharmaceuticals Inc.

发明人： Jeffrey Reid ,  Lukas Habegger ,  Jonathan Packer ,  Evan Maxwell

IPC分类号： G01N33/48 ,  G16B20/10 ,  G16B30/00 ,  G16B40/00 ,  G16B20/00 ,  G16B20/20 ,  G16B40/30 ,  C12Q1/6869

摘要： Methods and systems for determining copy number variants are disclosed. An example method can comprise applying a sample grouping technique to select reference coverage data, normalizing sample coverage data comprising a plurality of genomic regions, and fitting a mixture model to the normalized sample coverage data based on the selected reference coverage data. An example method can comprise identifying one or more copy number variants (CNVs) according to a Hidden Markov Model (HMM) based on the normalized sample coverage data and the fitted mixture model. An example method can comprise outputting the one or more copy number variants.

公开(公告)号：US20220399074A1

公开(公告)日：2022-12-15

申请号：US17875467

申请日：2022-07-28

申请人： MeMed Diagnostics Ltd.

发明人： Eran EDEN ,  Kfir OVED ,  Roy NAVON ,  Assaf COHEN-DOTAN ,  Olga BOICO

IPC分类号： G16B5/20 ,  G16B5/00 ,  G16B20/00 ,  G16B40/00 ,  G16B20/20 ,  G16B40/30 ,  G16B25/10 ,  G16B40/20 ,  G16H50/50 ,  G06F17/18

摘要： A method of analyzing biological data containing expression values of a plurality of polypeptides in the blood of a subject. The method comprises: calculating a distance between a segment of a curved line and an axis defined by a direction, the distance being calculated at a point over the curved line defined by a coordinate along the direction. The method further comprises correlating the distance to the presence of, absence of, or likelihood that the subject has, a bacterial infection. The coordinate is defined by a combination of the expression values, wherein at least 90% of the segment is between a lower bound line and an upper bound line.

公开(公告)号：US20220383985A1

公开(公告)日：2022-12-01

申请号：US17763501

申请日：2020-09-25

申请人： Helmholtz Zentrum Muenchen - Deutsches Forschungszentrum Fuer Gesundhelt Und Umwelt (GmbH)

发明人： Fabian Theis ,  Mohammad Lotfollahi ,  Fabian Alexander Wolf

IPC分类号： G16B40/30 ,  G06N3/08 ,  G16B25/10

摘要： The present invention relates to a computer-implemented method for modelling genomic data represented in an unsupervised neural network, trVAE, comprising a conditional variational autoencoder, CVAE, with an encoder (f) and a decoder (g).

公开(公告)号：US20220351805A1

公开(公告)日：2022-11-03

申请号：US17750055

申请日：2022-05-20

申请人： Tempus Labs, Inc.

发明人： Nike T. Beaubier ,  Joshua SK Bell ,  Catherine Igartua ,  Hailey B. Lefkofsky ,  Lee F. Langer ,  Joshua Drews

IPC分类号： G16B25/10 ,  G16B5/20 ,  G16B30/10 ,  G16B40/30 ,  G16B40/20

摘要： Disclosed herein are systems, methods, and compositions useful for determining cellular pathway disruption comprising the use of RNA expression level information. This determined level of disruption can assist in the identification of genetic variants that alter pathway activity, to correlate these variants with disease state and disease progression, and to identify those therapeutics most likely to be effective and which should be avoided.

公开(公告)号：US11482307B2

公开(公告)日：2022-10-25

申请号：US15910845

申请日：2018-03-02

申请人： Drexel University

发明人： Zhengqiao Zhao ,  Gail Rosen

IPC分类号： G16B50/10 ,  G06K9/62 ,  G16B50/00 ,  G16B40/00 ,  G16B40/30 ,  G06F16/28 ,  G16B40/20 ,  G16B50/30

摘要： An incremental author disambiguation framework may create new clusters to accommodate new data based on the existing cluster results and newly added data. The proposed system may provide frequent update of taxonomic classification, name disambiguation and many other applications because it takes less time to generate new results. In addition, the proposed methods may reduce the time needed for updating the model and help improve the performance with the limited computational resource.

公开(公告)号：US20220275463A1

公开(公告)日：2022-09-01

申请号：US17751038

申请日：2022-05-23

申请人： THE UNIVERSITY OF BRITISH COLUMBIA

发明人： Sohrab SHAH ,  Yikan WANG ,  Ali Bashashati SAGHEZCHI ,  David HUNTSMAN ,  Samuel APARICIO ,  Andrew MCPHERSON ,  Diljot GREWAL

IPC分类号： C12Q1/6886 ,  G16B20/20 ,  G16B40/30 ,  G16B30/00

摘要： The present invention relates, in part, to methods for the stratification, prognosis, diagnosis and stratification of a cancer, such as an ovarian cancer or a breast cancer.

公开(公告)号：US20220270712A1

公开(公告)日：2022-08-25

申请号：US17669790

申请日：2022-02-11

申请人： Rutgers, The State University of New Jersey ,  National University of Ireland Maynooth, Maynooth University

发明人： Catherine M. Grgicak ,  Desmond S. Lun ,  Kenneth R. Duffy

IPC分类号： G16B40/30 ,  G16B30/00 ,  G16B5/20 ,  G16B20/20

摘要： Systems and methods of the present disclosure enable automated analyses of a biological sample using a processing system by receiving signal profiles of each allele of a set of cells in the sample. A set of allele vectors are determined based on a mapping of the magnitude of the measurement of each signal profile at each locus to an index location. A set of cell vectors is generated by concatenating each allele vector of each cell. A cluster model is utilized to generate clusters of the signal profiles based on the set of cell vectors to represent contributors. A first likelihood of a target contributor matching a contributor and a second likelihood of the target contributor not matching any contributor are determined by comparing the target signal profile to each cluster. A likelihood ratio is determined from a ratio of the first likelihood and the second likelihood.

公开(公告)号：US20220270711A1

公开(公告)日：2022-08-25

申请号：US17597844

申请日：2020-07-31

申请人： Flagship Pioneering Innovations VI, LLC

发明人： Jacob D. Feala ,  Andrew Lane Beam ,  Molly Krisann Gibson ,  Bernard Joseph Cabral

IPC分类号： G16B40/30 ,  G16B15/20 ,  G16B45/00 ,  G16B35/10

摘要： Systems, apparatuses, software, and methods for engineering amino acid sequences configured to have specific protein functions or properties. Machine learning is implemented by methods to process an input seed sequence and generate as output an optimized sequence having the desired function or property.