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公开(公告)号:US20240355485A1
公开(公告)日:2024-10-24
申请号:US18635663
申请日:2024-04-15
Applicant: Tempus AI, Inc.
Inventor: Mark Carty , Raphael Pelossof , Talal Ahmed , Ameen Salahudeen
Abstract: The disclosure provides methods and systems for predicting an effect of a pharmaceutical agent in a test subject of a first species. Information about the test subject is input into a multi-task model comprising a plurality of parameters. The model applies the plurality of parameters to the information about the test subject through a plurality of instructions to generate, as output from the multi-task model, a plurality of outputs including a predicted effect of the pharmaceutical agent in the test subject and, for each respective cell type variable in a set of one or more cell type variables, a corresponding cell type classification. The information about the test subject includes a plurality of abundance values including, for each respective cellular constituent in a plurality of cellular constituents, a corresponding abundance value for the abundance of the respective cellular constituent in a biological sample of the test subject.
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公开(公告)号:US20240355415A1
公开(公告)日:2024-10-24
申请号:US18688211
申请日:2021-09-03
Applicant: INSTITUT NATIONAL DE LA SANTE ET DE LA RECHERCHE MEDICALE , CENTRE NATIONAL DE LA RECHERCHE SCIENTIFIQUE (C.N.R.S.) , UNIVERSITE CÔTE D'AZUR , CHU DE NICE
Inventor: Silvia BOTTINI , David PRATELLA , Marco MILANESIO , Véronique DUBOC , Véronique PAQUIS-FLUCKLINGER
IPC: G16B20/10 , C12Q1/6827 , G16B40/20 , G16H10/40 , G16H50/20
CPC classification number: G16B20/10 , C12Q1/6827 , G16B40/20 , G16H10/40 , G16H50/20
Abstract: Here, a suite of methods and devices is provided, allowing the implementation of a strategy for Non-Invasive Prenatal Testing (NIPT) results validation in clinical practice: a package to perform NIPT analysis, a semi-supervised approach to create synthetic sequences and to estimate confidence intervals for aneuploidies prediction and a package to test the reliability of NIPT results based on confidence intervals. These new tools were validated on 2 cohorts including confirmed ancuploidies, demonstrating sensitivity and specificity of 100%. Thus, the invention relates to a method for assessing the fetal fraction (ff) and sequencing depth (sd) in NIPT; devices for implementing the method, computer program products and computer readable mediums. This result yields the conclusion that thresholds of ff, sd and E value need to be assessed for each data analysis pipeline, chromosome and cohort. The provided devices and methods are thus of wide interest as it allows to identify these thresholds in a laboratory—specific fashion to improve NIPT performances.
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3.
公开(公告)号:US20240336900A1
公开(公告)日:2024-10-10
申请号:US18436635
申请日:2024-02-08
Inventor: Andrew Ellington , Simon d’Oelsnitz , Daniel Diaz
CPC classification number: C12N9/1007 , C12P17/18 , G16B15/00 , G16B40/20
Abstract: This invention relates to non-naturally occurring methyltransferase, wherein said methyltransferase can methylate norbelladine to form 4-O'Methylnorbelladine. The invention is also drawn to a biosensor for detecting 4-O'Methylnorbelladine, wherein the biosensor comprises an engineered substrate-promiscuous regulator, wherein said substrate-promiscuous regulator has been engineered to interact more efficiently with 4-O'Methylnorbelladine than does a naturally occurring substrate promiscuous regulator; and further wherein the biosensor is engineered to provide an output signal, wherein said output signal is generated when the biosensor interacts with 4-O'Methylnorbelladine.
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公开(公告)号:US20240331800A1
公开(公告)日:2024-10-03
申请号:US18732589
申请日:2024-06-03
Applicant: ExSano, Inc.
Inventor: Steven Elliot Stupp
Abstract: During a feature-selection technique, an electronic device calculates combinations of features and noise vectors, where a given combination corresponds to a given feature and a given noise vector. Then, the electronic device determines statistical associations between information specifying types of events and the combinations, where a given statistical association corresponds to the types of events and a given combination. Moreover, the electronic device identifies a noise threshold associated with the combinations. Next, for a group of combinations having statistical associations equal to or greater than the noise threshold, the electronic device selects a subset of the features based at least in part on a first 10 aggregate property of the group of combinations, where the first aggregate property comprises numbers of occurrences of the features in the group of combinations.
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公开(公告)号:US20240331798A1
公开(公告)日:2024-10-03
申请号:US18619010
申请日:2024-03-27
Applicant: The Chinese University of Hong Kong
Inventor: Yu LI , Jiayang CHEN
Abstract: A foundation model for analysis of RNA sequences, including ncRNA sequences, can be trained to provide output embeddings (in a high-dimensional space) corresponding to input RNA sequences. Training of the RNA foundation model can use a large-scale dataset of RNA sequences without any annotation as to structure or function. The trained RNA foundation model can thereafter be used to produce embeddings that can be used as input features in downstream task-specific machine-learning models (or other computer models) that can learn to predict particular aspects of structure and/or function for a given RNA sequence.
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6.
公开(公告)号:US20240321397A1
公开(公告)日:2024-09-26
申请号:US18612240
申请日:2024-03-21
Applicant: Accenture Global Solutions Limited
Inventor: Maziyar Baran Pouyan
Abstract: The present disclosure relates to a system, computer readable medium, and method for applying hyperdimensional computing and dimension reduction to extract properties from a sparse data set. Applying hyperdimensional computing can solve issues of dimensionality and dropout causing sparse data by expanding the dimension of the data. The result of hyperdimensional computing can involve too much data to be reasonably suitable for downstream computing processes (e.g., clustering for classification). Transforming the hyperdimensional embeddings provided by hyperdimensional computing into simplified/reduced embeddings can solve the problems of processing extremely large data. This improvement in accuracy and usefulness/useability of the sparse data helps reduce the need for extensive time, computing resources, and expensive equipment to extract expression data from deeper from cells.
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公开(公告)号:US20240312564A1
公开(公告)日:2024-09-19
申请号:US18604046
申请日:2024-03-13
Applicant: GRAIL, LLC
Inventor: Sahar Nohzadeh-Malakshah , Qinwen Liu , Seyedmehdi Shojaee , Jing Xiang , Joseph Marcus , Chenlu Hou , John F. Beausang , Jonathan Heiss , Oliver Claude Venn
IPC: G16B30/00 , C12Q1/6869 , G16B40/20
CPC classification number: G16B30/00 , C12Q1/6869 , G16B40/20 , C12Q2600/154
Abstract: Methods for WBC contamination detection are disclosed. The computer-implemented methods for WBC contamination detection aim to assess whether a sample is contaminated by the WBC-shed DNA and may further determine a level of contamination. A first coverage-based approach assesses normalized coverage of sequence reads of a test sample at each genomic locus in a feature set of genomic loci. A contamination metric may be calculated based on a distance of the test sample's normalized coverage to a distribution of purified cfDNA samples. A second methylation-based approach deconvolves tissue type based on methylation features. A distribution is generated based on tissue type fractions of purified cfDNA samples from non-cancer subjects. The contamination metric is calculated based on a distance relative to the distribution of tissue type fractions. A third quantitative coverage-based approach generates distributions of coverage for cfDNA samples and for WBC samples for each genomic locus. A contamination metric is calculated as a fractional contribution of WBC-shed DNA that maximizes a likelihood based on the distributions of coverage.
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公开(公告)号:US20240312563A1
公开(公告)日:2024-09-19
申请号:US18027792
申请日:2022-08-17
Applicant: IMB Dx, Inc.
Inventor: Seong Mun JEONG , Wook Jae LEE , Su Yeon KIM , Hwang Phill KIM , Sung Tae MOON , Tae You KIM
Abstract: The present invention relates to a method for preparing a multi-analytical prediction model for cancer diagnosis and a method of providing information for cancer diagnosis using the same. The method of preparing a multi-analytical prediction model for cancer diagnosis according to one embodiment of the present invention and the method of providing information for cancer diagnosis using the prediction model have advantages in that it is possible to diagnose cancer with high accuracy and sensitivity and to diagnose cancer at an early stage.
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公开(公告)号:US20240304278A1
公开(公告)日:2024-09-12
申请号:US18600357
申请日:2024-03-08
Applicant: KWS SAAT SE & Co. KGaA
Inventor: Bjoern Oest HANSEN
Abstract: The present application is directed to a method for identifying at least one candidate (Loc), namely a gene location and/or a sequence variant, indicative for at least one selected (phenotypic) trait of an organism, in particular of a plant, comprising the steps of:
a. receiving a plurality of candidate lists (Can1, Can2, Can3) of candidates (Loc), the candidate lists being ordered;
b. receiving a reference set (RefDB) with gene locations and/or sequence variants;
c. matching at least a subset of candidates (Loc) from the candidate lists (Can1, Can2, Can3) with the reference list (RefDB) to determine an evaluation value (EV) for at least the subset;
d. assigning each evaluation value (EV) to the respective candidate (Loc) in the respective candidate lists (Can1, Can2, Can3);
e. calculating for each candidate list a performance value based on the evaluation value (EV), in particular by using the evaluation values (EV);
f. selecting at least one candidate (Loc) as (preferred) candidate (Loc) from one of the candidate lists (Can1, Can2, Can3) using the performance values.-
10.
公开(公告)号:US20240301492A1
公开(公告)日:2024-09-12
申请号:US18258516
申请日:2021-12-22
Applicant: Enumera Molecular, Inc.
Inventor: Amin R. Mazloom , Kevin Jacobs , Vladislav Volman , Jeffrey William Perry , Ronald David Beaubien, Jr.
IPC: C12Q1/6881 , C12Q1/6874 , G16B30/00 , G16B40/20
CPC classification number: C12Q1/6881 , C12Q1/6874 , G16B30/00 , G16B40/20 , C12Q2600/16
Abstract: Methods, systems, and kits for estimating fetal fraction in a mixed fetal-maternal DNA sample are disclosed, by molecular counting of a predetermined set of informative sequences. These find use in detecting and quantifying variations in gene dosage, e.g., due to gene duplication, or to variations from the normal euploid complement of chromosomes, e.g., trisomy of one or more chromosomes that are normally found in diploid pairs, in the context of non-invasive prenatal testing.
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