公开(公告)号：US20230118920A1

公开(公告)日：2023-04-20

申请号：US18066585

申请日：2022-12-15

申请人： FUJIFILM Corporation

发明人： Masaya NAGASE

IPC分类号： G16B50/10

摘要： There is provided an operation method for an information processing apparatus, the operation method being performed by a processor, the operation method including: an acquisition process for acquiring pieces of annotation information added to each of a plurality of biomarkers related to biological samples; a deriving process for deriving an evaluation value of each of the plurality of biomarkers on the basis of the pieces of annotation information; and a selection process for selecting on the basis of the evaluation value, measurement target biomarkers from among the plurality of biomarkers.

公开(公告)号：US20220367011A1

公开(公告)日：2022-11-17

申请号：US17321371

申请日：2021-05-14

申请人： International Business Machines Corporation

发明人： Vito Paolo Pastore ,  Mark Kunitomi ,  Simone Bianco

IPC分类号： G16B50/10 ,  G16B30/10 ,  G06F16/28

摘要： Provided is a deep learning algorithm that analyzes fragments of biological sequences. The input for the deep learning algorithm is a biological sequence fragment of unknown origin and the output is the closest known biological genome that could share phenotypic properties with the biological species of unknown origin. The workflow thus has application for genomic classification, identification of mutations within known genomes, and the identification of the closest class for unknown species.

公开(公告)号：US20220358373A1

公开(公告)日：2022-11-10

申请号：US17865834

申请日：2022-07-15

申请人： Ro5 Inc.

发明人： Alwin Bucher ,  Gintautas Kamuntavicius ,  Alvaro Prat ,  Orestis Bastas ,  Zygimantas Jocys ,  Roy Tal

IPC分类号： G06N5/02 ,  G06F16/951 ,  G06K9/62 ,  G06N3/08 ,  G16B15/00 ,  G16B40/00 ,  G16B45/00 ,  G16B50/10

摘要： A system and method for optimizing the latent space in generative machine learning models, and applications of the optimizations for use in the de novo generation of molecules for both ligand-based and pocket-based generation. The ligand-based optimizations comprise a tunable reward system based on a multi-property model and further define new measurable metrics: molecular novelty and uniqueness. The pocket-based optimizations comprise an initial multi-property optimization followed up by either a seed-based optimization or a relaxed-based optimization.

公开(公告)号：US20220261384A1

公开(公告)日：2022-08-18

申请号：US17729896

申请日：2022-04-26

申请人： Seven Bridges Genomics Inc.

发明人： Vladimir Semenyuk

IPC分类号： G06F16/22 ,  G06F16/901 ,  G06F16/2455 ,  G16B50/00 ,  G16B50/20 ,  G16B30/10 ,  G16B50/30 ,  G16B50/10 ,  G16B50/50

摘要： Methods of the invention include representing biological data in a memory subsystem within a computer system with a data structure that is particular to a location in the memory subsystem and serializing the data structure into a stream of bytes that can be deserialized into a clone of the data structure. In a preferred genomic embodiment, the biological data comprises genomic sequences and the data structure comprises a genomic directed acyclic graph (DAG) in which objects have adjacency lists of pointers that indicate the location of any object adjacent to that object. After serialization and deserialization, the clone genomic DAG has the same structure as the original to represent the same sequences and relationships among them as the original.

公开(公告)号：US20220238180A1

公开(公告)日：2022-07-28

申请号：US17520037

申请日：2021-11-05

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

发明人： Mark Yandell ,  Marc Singleton ,  Martin Reese ,  Karen Eilbeck

IPC分类号： G16B20/00 ,  G16B40/00 ,  G16B30/00 ,  G16B45/00 ,  G16B50/00 ,  G06F40/169 ,  G16B20/20 ,  G16B20/30 ,  G16B20/40 ,  G16B50/10 ,  G16B30/10 ,  G06F7/02

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：US20220180319A1

公开(公告)日：2022-06-09

申请号：US17541441

申请日：2021-12-03

申请人： Novartis AG

发明人： Sidhyansh SAXENA ,  Achim Plueckebaum ,  Badhri Srinivasan ,  Christian Diehl

IPC分类号： G06Q10/10 ,  G16B50/20 ,  G16B50/10 ,  G16B50/30

摘要： A platform and method for enabling collaboration on data analysis of life sciences data across disparate databases are disclosed. The collaboration platform may allow for performing exploratory analysis for drug discovery and development. The collaboration platform may include a search and graph module for generating a user project and determining and displaying one or more matching data assets and one or more potential collaborators; a collaboration module for coordinating a collaboration between the user and one or more selected collaborators; a data management module for receiving a schema for one or more producer projects, receiving data from the one or more selected data assets, and ingesting the received data using common standards and an ontology; and an insight application for generating disease specific inferences relating to a scientific question using the ingested received data, and receiving a feedback from the user and/or the selected collaborators to improve the search and graph module.

公开(公告)号：US20220172811A1

公开(公告)日：2022-06-02

申请号：US17614265

申请日：2020-05-29

申请人： THE UNIVERSITY OF NEWCASTLE

发明人： Murray CAIRNS ,  William REAY

IPC分类号： G16H20/00 ,  G16B50/10 ,  G16B20/20 ,  G16H10/40 ,  G16H10/20

摘要： Disclosed herein are methods for treating complex disorders in human subjects and for preventing complex disorders in human subjects at risk of developing the disorder, including identifying one or more pharmacologically relevant biological pathways associated with a complex disorder and selecting an agent suitable for the treatment or prevention of the complex disorder. As described herein, the quantification of common variant enrichment in biological pathways with known drug targets provides a means of functionally annotating genome-wide polygenic risk scoring, which provides an indication of an individual's exposure to risk variants that are potentially treatable using existing pharmaceutical agents, dietary supplements or lifestyle interventions.

公开(公告)号：US11348693B2

公开(公告)日：2022-05-31

申请号：US16378265

申请日：2019-04-08

申请人： Tata Consultancy Services Limited

发明人： Thomas Joseph ,  Aditya Rao ,  Naveen Sivadasan ,  Saipradeep Govindakrishnan Vangala ,  Sujatha Kotte ,  Rajgopal Srinivasan

IPC分类号： G16H70/60 ,  G16H10/20 ,  G06F16/28 ,  G06F16/90 ,  G16B45/00 ,  G16B35/10 ,  G16B50/10 ,  G06N5/04 ,  G06F16/901

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：US20220155298A1

公开(公告)日：2022-05-19

申请号：US17441240

申请日：2020-03-23

申请人： BASF SE

发明人： Monika HEILMANN ,  Pilar PUENTE ,  Oliver THIMM ,  Iain PROCTOR ,  Girish SRINIVAS

IPC分类号： G01N33/569 ,  G16B20/00 ,  G16B40/20 ,  G16B50/10

摘要： The invention relates to a method for predicting yield performance of a crop plant, comprising the steps of receiving metabolite measurements of the crop plant; determining new metabolite features by combining the received metabolite measurements, wherein at least one new metabolite feature is based on a classified average; providing the new metabolite features to a trained machine learning model; and determining yield performance of the crop plant using the provided model. It also relates to a method for training a machine learning model for predicting yield performance of a crop plant; a control unit configured to execute the method for predicting yield performance; to a plant breeding method and a farming method that apply said method; and the use of new metabolite features as determined in said method for prediction of yield performance.

公开(公告)号：US11232854B2

公开(公告)日：2022-01-25

申请号：US16151111

申请日：2018-10-03

申请人： Ancestry.com DNA, LLC

发明人： Ariel Hippen Anderson ,  Ahna R. Girshick ,  Ross E. Curtis ,  Benjamin Wilson ,  David A. Turissini

IPC分类号： G01N33/48 ,  G01N33/50 ,  G16B40/20 ,  G16B40/00 ,  G16B5/00 ,  G16B50/10 ,  G16B40/30 ,  G16B10/00 ,  G16B5/20

摘要： Described are techniques for determining population structure from identity-by-descent (IBD) of individuals. The techniques may be used to predict that an individual belongs to zero, one or more of a number of communities identified within an IBD network. Additional data may be used to annotate the communities with birth location, surname, and ethnicity information. In turn, these data may be used to provide to an individual a prediction of membership to zero, one or more communities, accompanied by a summary of the information annotated to those communities. Ethnicity heterogeneity and age information may be tabulated and provided based on community membership information.