SG11202110655UA - Systems and methods for karyotyping by sequencing - Google Patents

Systems and methods for karyotyping by sequencing

Info

Publication number
SG11202110655UA
SG11202110655UA SG11202110655UA SG11202110655UA SG11202110655UA SG 11202110655U A SG11202110655U A SG 11202110655UA SG 11202110655U A SG11202110655U A SG 11202110655UA SG 11202110655U A SG11202110655U A SG 11202110655UA SG 11202110655U A SG11202110655U A SG 11202110655UA
Authority
SG
Singapore
Prior art keywords
karyotyping
sequencing
systems
methods
Prior art date
Application number
SG11202110655UA
Inventor
Shawn Sullivan
Brad Nelson
Max Press
Zev Kronenberg
Stephen Eacker
Ivan Liachko
Original Assignee
Phase Genomics Inc
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Phase Genomics Inc filed Critical Phase Genomics Inc
Publication of SG11202110655UA publication Critical patent/SG11202110655UA/en

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    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • G—PHYSICS
    • G06—COMPUTING; CALCULATING OR COUNTING
    • G06T—IMAGE DATA PROCESSING OR GENERATION, IN GENERAL
    • G06T7/00—Image analysis
    • G06T7/0002—Inspection of images, e.g. flaw detection
    • G06T7/0012—Biomedical image inspection
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869—Methods for sequencing
    • G—PHYSICS
    • G06—COMPUTING; CALCULATING OR COUNTING
    • G06T—IMAGE DATA PROCESSING OR GENERATION, IN GENERAL
    • G06T5/00—Image enhancement or restoration
    • G06T5/70—Denoising; Smoothing
    • G—PHYSICS
    • G06—COMPUTING; CALCULATING OR COUNTING
    • G06T—IMAGE DATA PROCESSING OR GENERATION, IN GENERAL
    • G06T7/00—Image analysis
    • G06T7/10—Segmentation; Edge detection
    • G06T7/13—Edge detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • G16B40/20—Supervised data analysis
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B45/00—ICT specially adapted for bioinformatics-related data visualisation, e.g. displaying of maps or networks
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H10/00—ICT specially adapted for the handling or processing of patient-related medical or healthcare data
    • G16H10/40—ICT specially adapted for the handling or processing of patient-related medical or healthcare data for data related to laboratory analysis, e.g. patient specimen analysis
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H10/00—ICT specially adapted for the handling or processing of patient-related medical or healthcare data
    • G16H10/60—ICT specially adapted for the handling or processing of patient-related medical or healthcare data for patient-specific data, e.g. for electronic patient records
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16H—HEALTHCARE INFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR THE HANDLING OR PROCESSING OF MEDICAL OR HEALTHCARE DATA
    • G16H50/00—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics
    • G16H50/20—ICT specially adapted for medical diagnosis, medical simulation or medical data mining; ICT specially adapted for detecting, monitoring or modelling epidemics or pandemics for computer-aided diagnosis, e.g. based on medical expert systems
    • G—PHYSICS
    • G06—COMPUTING; CALCULATING OR COUNTING
    • G06T—IMAGE DATA PROCESSING OR GENERATION, IN GENERAL
    • G06T2207/00—Indexing scheme for image analysis or image enhancement
    • G06T2207/30—Subject of image; Context of image processing
    • G06T2207/30004—Biomedical image processing
    • G06T2207/30072—Microarray; Biochip, DNA array; Well plate
    • G—PHYSICS
    • G06—COMPUTING; CALCULATING OR COUNTING
    • G06T—IMAGE DATA PROCESSING OR GENERATION, IN GENERAL
    • G06T2207/00—Indexing scheme for image analysis or image enhancement
    • G06T2207/30—Subject of image; Context of image processing
    • G06T2207/30004—Biomedical image processing
    • G06T2207/30096—Tumor; Lesion

Landscapes

  • Engineering & Computer Science (AREA)
  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Medical Informatics (AREA)
  • Chemical & Material Sciences (AREA)
  • General Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Theoretical Computer Science (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Public Health (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Data Mining & Analysis (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Epidemiology (AREA)
  • Analytical Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Molecular Biology (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Genetics & Genomics (AREA)
  • Primary Health Care (AREA)
  • General Physics & Mathematics (AREA)
  • Databases & Information Systems (AREA)
  • Biochemistry (AREA)
  • Biomedical Technology (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • General Engineering & Computer Science (AREA)
  • Bioethics (AREA)
  • Artificial Intelligence (AREA)
  • Software Systems (AREA)
  • Evolutionary Computation (AREA)
  • Pathology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
SG11202110655UA 2019-03-28 2020-03-27 Systems and methods for karyotyping by sequencing SG11202110655UA (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201962825499P 2019-03-28 2019-03-28
PCT/US2020/025528 WO2020198704A1 (en) 2019-03-28 2020-03-27 Systems and methods for karyotyping by sequencing

Publications (1)

Publication Number Publication Date
SG11202110655UA true SG11202110655UA (en) 2021-10-28

Family

ID=72610735

Family Applications (1)

Application Number Title Priority Date Filing Date
SG11202110655UA SG11202110655UA (en) 2019-03-28 2020-03-27 Systems and methods for karyotyping by sequencing

Country Status (8)

Country Link
US (1) US20220180964A1 (en)
EP (1) EP3948872A4 (en)
JP (1) JP2022526440A (en)
CN (1) CN114026644A (en)
AU (1) AU2020248338A1 (en)
CA (1) CA3135026A1 (en)
SG (1) SG11202110655UA (en)
WO (1) WO2020198704A1 (en)

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WO2019178546A1 (en) 2018-03-16 2019-09-19 Scipher Medicine Corporation Methods and systems for predicting response to anti-tnf therapies
JP2022541125A (en) 2019-06-27 2022-09-22 サイファー メディシン コーポレーション Developing classifiers to stratify patients
US11651862B2 (en) * 2020-12-09 2023-05-16 MS Technologies System and method for diagnostics and prognostics of mild cognitive impairment using deep learning
CN112257692B (en) * 2020-12-22 2021-03-12 湖北亿咖通科技有限公司 Pedestrian target detection method, electronic device and storage medium
TWI783699B (en) * 2021-02-09 2022-11-11 國立臺灣大學 A method for identifying individual gene and its deep learning model
CN113156390B (en) * 2021-03-19 2023-09-08 深圳航天科技创新研究院 Radar signal processing method and device, and computer readable storage medium
KR20240042361A (en) * 2021-03-19 2024-04-02 사이퍼 메디슨 코퍼레이션 Patient classification and treatment methods
CN113298855B (en) * 2021-05-27 2021-12-28 广州柏视医疗科技有限公司 Image registration method based on automatic delineation
CN113589191B (en) * 2021-07-07 2024-03-01 郴州雅晶源电子有限公司 Power failure diagnosis system and method
CN113762335B (en) * 2021-07-27 2022-05-13 北京交通大学 Intelligent system test data generation method based on uncertainty
WO2023092303A1 (en) * 2021-11-23 2023-06-01 Chromatintech Beijing Co, Ltd Method for generating an enhanced hi-c matrix, non-transitory computer readable medium storing a program for generating an enhanced hi-c matrix, method for identifying a structural chromatin aberration in an enhanced hi-c matrix
WO2023172882A2 (en) * 2022-03-07 2023-09-14 Arima Genomics, Inc. Methods and compositions for identifying structural variants
WO2023172923A2 (en) * 2022-03-08 2023-09-14 BioSkryb Genomics, Inc. Systems and methods relating to bioinformatics
CN114611164B (en) * 2022-03-18 2022-10-11 昆山华东信息科技有限公司 Information security management system based on big data
AU2023245692A1 (en) * 2022-03-29 2024-10-17 Ahead Intelligence Ltd. Methods and devices of processing cytometric data
CN115188413A (en) * 2022-06-17 2022-10-14 广州智睿医疗科技有限公司 Chromosome karyotype analysis module
WO2024006744A2 (en) * 2022-06-28 2024-01-04 Foundation Medicine, Inc. Methods and systems for normalizing targeted sequencing data
CN115082474B (en) * 2022-08-22 2023-03-03 湖南自兴智慧医疗科技有限公司 Chromosome segmentation method and device based on homologous same-class chromosome information
CN118366155B (en) * 2024-06-19 2024-09-27 杭州德适生物科技有限公司 Numbering identification method for R-banding chromosome

Family Cites Families (6)

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EP2563937A1 (en) * 2011-07-26 2013-03-06 Verinata Health, Inc Method for determining the presence or absence of different aneuploidies in a sample
WO2015183872A1 (en) * 2014-05-30 2015-12-03 Sequenom, Inc. Chromosome representation determinations
US9984201B2 (en) * 2015-01-18 2018-05-29 Youhealth Biotech, Limited Method and system for determining cancer status
JP6991134B2 (en) * 2015-10-09 2022-01-12 ガーダント ヘルス， インコーポレイテッド Population-based treatment recommendations using cell-free DNA
NZ745249A (en) * 2016-02-12 2021-07-30 Regeneron Pharma Methods and systems for detection of abnormal karyotypes
GB201608000D0 (en) * 2016-05-06 2016-06-22 Oxford Biodynamics Ltd Chromosome detection

Also Published As

Publication number Publication date
WO2020198704A1 (en) 2020-10-01
EP3948872A4 (en) 2023-04-26
US20220180964A1 (en) 2022-06-09
AU2020248338A1 (en) 2021-11-18
EP3948872A1 (en) 2022-02-09
CN114026644A (en) 2022-02-08
JP2022526440A (en) 2022-05-24
CA3135026A1 (en) 2020-10-01

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