公开(公告)号：WO2022241481A1

公开(公告)日：2022-11-17

申请号：PCT/US2022/072352

申请日：2022-05-16

Applicant: TMACCELERATOR COMPANY, LLC

Inventor： FERNANDEZ, Jose ,  WILLIAMSON, Lina ,  RESNIKOFF, Joshua

IPC: G16H10/40 ,  G16H50/70 ,  G16H50/80 ,  G16H80/00 ,  G06F16/93 ,  G06F21/62 ,  G16B20/40 ,  G16H10/60 ,  G16H50/20 ,  G16H50/30

Abstract: A precision medicine system for patient management and rare disease identification can include an interface and a global data lake. The interface can be configured to search a plurality of search databases including medical data related to diagnosis or treatment plans. The global data lake can be configured to include a plurality of patient data lakes each storing patient data of at least one patient. The precision medicine system can further include a processor and a memory configured to label the patient data using medical ontologies and selectively produce relevant medical data from the search databases via the interface. The patient data can then be supplemented with the medical data. Embodiments enable clinicians to provide specialized, up to date diagnosis and treatment plants to patients by providing the clinicians with medical advancements specific to their patient.

公开(公告)号：WO2021113749A1

公开(公告)日：2021-06-10

申请号：PCT/US2020/063462

申请日：2020-12-04

Applicant: TEMPUS LABS, INC.

Inventor： BELL, Joshua, SK ,  IGARTUA, Catherine ,  DREWS, Joshua

IPC: G16B20/40 ,  G16B30/00 ,  G16H10/40 ,  G16H40/40

Abstract: Systems and methods are provided for performing quality control analysis. The method obtains, in electronic form, a batch dataset comprising, for each respective sample in a batch of samples, a corresponding plurality of sequence reads derived from the respective sample by targeted or whole transcriptome RNA sequencing and corresponding metadata for the respective sample. The method determines for the batch dataset a cohort-matched reference batch, where the cohort- matched reference batch is balanced for tissue site, tumor purity, cancer type, sequencer identity, or date sequenced. The method performs one or more global batch quality control tests on the batch dataset using at least the cohort-matched reference batch. The method removes respective samples from the batch dataset that fail any one of the one or more global batch quality control tests or flagging for manual inspection respective samples that fail any one of the one or more global batch quality control tests.

公开(公告)号：WO2021097878A1

公开(公告)日：2021-05-27

申请号：PCT/CN2019/121147

申请日：2019-11-27

Applicant: 南京师范大学

Inventor： 尹绍武 ,  张鑫宇 ,  王涛 ,  裴雪莹 ,  张红燕 ,  郑翔

IPC: C12Q1/6888 ,  C12N15/11 ,  G16B40/10 ,  G16B50/30 ,  G16B20/40

Abstract: 本发明公开了一种暗纹东方鲀SNP分子标记及其在遗传育种的应用。公开的暗纹东方鲀SNP分子标记包括体重、标准头长相关的SNP分子标记TGF120和与抗寒能力相关的SNP分子标记CIRP41，它们所在碱基序列分别如SEQ ID NO:1和SEQ ID NO:2所示，所述TGF120位于SEQ ID NO:1所示序列的第120位m，碱基为C或A，所述CIRP41位于SEQ ID NO:2所示序列的第41位y，碱基为A或T。本发明还提供了一种暗纹东方鲀遗传质量判断系统。

公开(公告)号：WO2020109858A1

公开(公告)日：2020-06-04

申请号：PCT/IB2019/001179

申请日：2019-10-31

Applicant: ASIA GENOMICS PTE. LTD.

Inventor： WONG, Mun, Yew ,  HAR, Jia, Yi ,  NG, Pauline, C. ,  ONG, Chun, Meng ,  VALENZUELA, Robert, Keams ,  SRIDHAR, Vishweshwaran

IPC: G16B20/40

Abstract: Disclosed herein are methods and systems for calculating genetic risk scores (GRS) representing the likelihood that an individual will develop a specific trait based on the ancestry of the individual. Also provided are methods and systems for providing a recommendation to the individual to modify a behavior related to a specific trait, based on the individual's GRS for that trait.

公开(公告)号：WO2019138244A1

公开(公告)日：2019-07-18

申请号：PCT/GB2019/050077

申请日：2019-01-11

Applicant: JOHN INNES CENTRE

Inventor： WULFF, Brande Bruce Hertel ,  ARORA, Sanu ,  STEUERNAGEL, Burkhard ,  GAURAV, Kumar

IPC: G16B20/20 ,  G16B20/40 ,  G16B20/50

CPC classification number: G16B20/20

Abstract: The invention is directed to a method for identifying one or more genes associated with a selected phenotype in an organism. The method includes the steps of screening a database for genetic samples or nucleic acids associated with a selected phenotype, producing enriched sample sequences, identifying sub-sequences of a fixed length k ( k - mers) associated with the selected phenotype within the enriched sample sequences, and mapping the identified k -mers. The method may be used for example to identify genes encoding plant resistance proteins, such as nucleotide-binding and leucine-rich repeat (NLR) proteins.

公开(公告)号：WO2022125175A1

公开(公告)日：2022-06-16

申请号：PCT/US2021/053764

申请日：2021-10-06

Applicant: F. HOFFMANN-LA ROCHE AG [CH]/[CH] ,  HOFFMANN-LA ROCHE INC. [US]/[US]

Inventor： MOLERO LEON, Silvia Elena ,  TASOGLU, Turap

IPC: G16B20/40 ,  G16H50/70

Abstract: Disclosed are techniques for using artificial intelligence (AI) to facilitate the selection of lines of therapy for subjects diagnosed with cancer. Methods and systems disclosed herein relate to techniques for using AI to predict therapeutic outcomes and cancer evolution in subjects based on mutation profiles of subjects across cancer types, to predict treatment survival prospects for subjects using enriched subject-specific data sets, and to automatically validate whether the reasons (e.g., represented by features in a subject record) that contributed to the selection of a particular line of therapy comply with oncological treatment guidelines.

公开(公告)号：WO2022076909A1

公开(公告)日：2022-04-14

申请号：PCT/US2021/054300

申请日：2021-10-08

Applicant: 23ANDME, INC.

Inventor： PARADARAMI, Tulasi Krishna ,  POLCARI, Michael ,  BALACHANDAR, Yeshwanth Bashyam ,  CORLEY, Matthew Bryan ,  VERMA, Anuved ,  BOG, Anja ,  BLAKKAN, Cordell T.

IPC: G16B20/20 ,  G16B20/40 ,  G16B30/10 ,  G16B50/30

Abstract: The disclosed embodiments concern methods, apparatus, systems, and computer program products for storing and retrieving genetic data for individuals. In some implementations, a storage format is provided that allows genetic data to be defined by metadata for reproduce-ability. In some embodiments, the method further includes accessing the database to identify genetic data for a plurality of the one or more individuals having one or more preselected phenotypes; assembling a cases cohort including a first plurality of individuals having the one or more preselected phenotypes; assembling a control cohort including a second plurality of individuals not in the cases cohort; and performing a genome wide association study (GWAS) based on the genetic data from the database for individuals in the cases cohort and control cohort.

公开(公告)号：WO2022005487A1

公开(公告)日：2022-01-06

申请号：PCT/US2020/040808

申请日：2020-07-03

Applicant: VARIAN MEDICAL SYSTEMS, INC. ,  VARIAN MEDICAL SYSTEMS INTERNATIONAL AG

Inventor： JOHNSON, Leigh Scott ,  HONEGGER, Jonas Michael ,  KUNZ, Patrik Niklaus ,  SCHEIB, Stefan Georg ,  ATTANASI, Francesca ,  MORGAN, Andrea

IPC: G16B20/40

Abstract: Systems and methods for cardiac radioablation treatment planning are disclosed. In some examples, a computing device receives a first signal identifying a first event within a first workspace from a second computing device. The computing device determines a first action to apply to a first image displayed within a second workspace based on the first signal. The computing device generates a second image based on applying the first action to the first image within the second workspace, and displays the second image within the second workspace. In some examples, the first workspace is a radiation oncologist workspace and the second workspace is an electrophysiologist workspace. In some examples, the first workspace is an electrophysiologist oncologist workspace and the second workspace is a radiation oncologist workspace.

公开(公告)号：WO2021243094A1

公开(公告)日：2021-12-02

申请号：PCT/US2021/034634

申请日：2021-05-27

Applicant: 23ANDME, INC.

Inventor： POLCARI, Michael ,  ZHAN, Jianan ,  GANESAN, Manoj ,  MARSHALL, Austin William ,  ASHENHURST, James Rowan ,  KONDO, Derrick Poo-Ray ,  AMIRI, Shiva ,  SINHA, Subarnarekha ,  SURESH, Sanjeev ,  MACPHERSON, John Michael ,  KOELSCH, Bertram Lorenz ,  BLAKKAN, Cordell T. ,  HAMILTON, Shannon M.

IPC: G16B40/20 ,  G16B20/20 ,  G16B20/40 ,  G06N5/04

Abstract: The disclosed embodiments concern methods, apparatus, systems, and computer program products for developing polygenic risk score (PRS) models. In some implementations, a fully automated process is provided that allows for a PRS model to be defined by an initial set of parameters. In some implementations the PRS models are trained to provide a PRS for particular populations.

公开(公告)号：WO2021213687A1

公开(公告)日：2021-10-28

申请号：PCT/EP2020/068109

申请日：2020-06-26

Applicant: NEC LABORATORIES EUROPE GMBH

Inventor： MALONE, Brandon ,  CHENG, Jun

IPC: G16B20/40 ,  G16B40/20 ,  G16B5/20

Abstract: According to an aspect of the present invention, there is provided a computer- implemented method of selecting one or more amino acid sequences for inclusion in a vaccine from a set of predicted immunogenic candidate amino acid sequences, the method comprising: identifying an immune profile response value for each candidate amino acid sequence in respect of each one of a plurality of sample components of an immune profile, wherein the immune profile response value represents whether the candidate amino acid sequence results in an immune response for the sample component of an immune profile; retrieving a plurality of immune profiles for a population; generating a plurality of representative immune profiles for the population, wherein the representative immune profiles overlap with the sample components of an immune profiles; and, selecting the one or more amino acid sequences for inclusion in the vaccine that minimises a likelihood of no immune response for each representative immune profile, based on the immune profile response values. A computer readable medium is also provided together with a method of there is provided a method of creating a vaccine.