Ainscough, 2017 - Google Patents
Knowledge Driven Approaches and Machine Learning Improve the Identification of Clinically Relevant Somatic Mutations in Cancer GenomicsAinscough, 2017
View PDF- Document ID
- 16491897375442979974
- Author
- Ainscough B
- Publication year
External Links
Snippet
For cancer genomics to fully expand its utility from research discovery to clinical adoption, somatic variant detection pipelines must be optimized and standardized to ensure identification of clinically relevant mutations and to reduce laborious and error-prone post …
- 201000011510 cancer 0 title abstract description 193
Classifications
-
- G—PHYSICS
- G06—COMPUTING; CALCULATING; COUNTING
- G06F—ELECTRICAL DIGITAL DATA PROCESSING
- G06F19/00—Digital computing or data processing equipment or methods, specially adapted for specific applications
- G06F19/10—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
- G06F19/18—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for functional genomics or proteomics, e.g. genotype-phenotype associations, linkage disequilibrium, population genetics, binding site identification, mutagenesis, genotyping or genome annotation, protein-protein interactions or protein-nucleic acid interactions
-
- G—PHYSICS
- G06—COMPUTING; CALCULATING; COUNTING
- G06F—ELECTRICAL DIGITAL DATA PROCESSING
- G06F19/00—Digital computing or data processing equipment or methods, specially adapted for specific applications
- G06F19/10—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
- G06F19/28—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for programming tools or database systems, e.g. ontologies, heterogeneous data integration, data warehousing or computing architectures
-
- G—PHYSICS
- G06—COMPUTING; CALCULATING; COUNTING
- G06F—ELECTRICAL DIGITAL DATA PROCESSING
- G06F19/00—Digital computing or data processing equipment or methods, specially adapted for specific applications
- G06F19/10—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
- G06F19/22—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for sequence comparison involving nucleotides or amino acids, e.g. homology search, motif or SNP [Single-Nucleotide Polymorphism] discovery or sequence alignment
-
- G—PHYSICS
- G06—COMPUTING; CALCULATING; COUNTING
- G06F—ELECTRICAL DIGITAL DATA PROCESSING
- G06F19/00—Digital computing or data processing equipment or methods, specially adapted for specific applications
- G06F19/10—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
- G06F19/24—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for machine learning, data mining or biostatistics, e.g. pattern finding, knowledge discovery, rule extraction, correlation, clustering or classification
-
- G—PHYSICS
- G06—COMPUTING; CALCULATING; COUNTING
- G06F—ELECTRICAL DIGITAL DATA PROCESSING
- G06F19/00—Digital computing or data processing equipment or methods, specially adapted for specific applications
- G06F19/30—Medical informatics, i.e. computer-based analysis or dissemination of patient or disease data
- G06F19/34—Computer-assisted medical diagnosis or treatment, e.g. computerised prescription or delivery of medication or diets, computerised local control of medical devices, medical expert systems or telemedicine
- G06F19/345—Medical expert systems, neural networks or other automated diagnosis
-
- G—PHYSICS
- G06—COMPUTING; CALCULATING; COUNTING
- G06F—ELECTRICAL DIGITAL DATA PROCESSING
- G06F19/00—Digital computing or data processing equipment or methods, specially adapted for specific applications
- G06F19/10—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
- G06F19/20—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for hybridisation or gene expression, e.g. microarrays, sequencing by hybridisation, normalisation, profiling, noise correction models, expression ratio estimation, probe design or probe optimisation
-
- G—PHYSICS
- G06—COMPUTING; CALCULATING; COUNTING
- G06F—ELECTRICAL DIGITAL DATA PROCESSING
- G06F19/00—Digital computing or data processing equipment or methods, specially adapted for specific applications
- G06F19/10—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology
- G06F19/12—Bioinformatics, i.e. methods or systems for genetic or protein-related data processing in computational molecular biology for modelling or simulation in systems biology, e.g. probabilistic or dynamic models, gene-regulatory networks, protein interaction networks or metabolic networks
-
- G—PHYSICS
- G06—COMPUTING; CALCULATING; COUNTING
- G06F—ELECTRICAL DIGITAL DATA PROCESSING
- G06F19/00—Digital computing or data processing equipment or methods, specially adapted for specific applications
- G06F19/30—Medical informatics, i.e. computer-based analysis or dissemination of patient or disease data
- G06F19/32—Medical data management, e.g. systems or protocols for archival or communication of medical images, computerised patient records or computerised general medical references
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; 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 micro-organisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Hybridisation probes
- C12Q1/6883—Hybridisation probes for diseases caused by alterations of genetic material
-
- G—PHYSICS
- G06—COMPUTING; CALCULATING; COUNTING
- G06F—ELECTRICAL DIGITAL DATA PROCESSING
- G06F17/00—Digital computing or data processing equipment or methods, specially adapted for specific functions
- G06F17/30—Information retrieval; Database structures therefor; File system structures therefor
- G06F17/30286—Information retrieval; Database structures therefor; File system structures therefor in structured data stores
-
- G—PHYSICS
- G06—COMPUTING; CALCULATING; COUNTING
- G06Q—DATA PROCESSING SYSTEMS OR METHODS, SPECIALLY ADAPTED FOR ADMINISTRATIVE, COMMERCIAL, FINANCIAL, MANAGERIAL, SUPERVISORY OR FORECASTING PURPOSES; SYSTEMS OR METHODS SPECIALLY ADAPTED FOR ADMINISTRATIVE, COMMERCIAL, FINANCIAL, MANAGERIAL, SUPERVISORY OR FORECASTING PURPOSES, NOT OTHERWISE PROVIDED FOR
- G06Q50/00—Systems or methods specially adapted for a specific business sector, e.g. utilities or tourism
- G06Q50/10—Services
- G06Q50/22—Health care, e.g. hospitals; Social work
Similar Documents
Publication | Publication Date | Title |
---|---|---|
Ainscough et al. | A deep learning approach to automate refinement of somatic variant calling from cancer sequencing data | |
US20240312581A1 (en) | Data based cancer research and treatment systems and methods | |
Cooke et al. | A unified haplotype-based method for accurate and comprehensive variant calling | |
EP4073805B1 (en) | Systems and methods for predicting homologous recombination deficiency status of a specimen | |
US10734117B2 (en) | Apparatuses and methods for determining a patient's response to multiple cancer drugs | |
US11475981B2 (en) | Methods and systems for dynamic variant thresholding in a liquid biopsy assay | |
JP2022532897A (en) | Systems and methods for multi-label cancer classification | |
EP4107732A1 (en) | Methods and systems for a liquid biopsy assay | |
US20210398617A1 (en) | Molecular response and progression detection from circulating cell free dna | |
US20220215900A1 (en) | Systems and methods for joint low-coverage whole genome sequencing and whole exome sequencing inference of copy number variation for clinical diagnostics | |
Moravec et al. | Testing for phylogenetic signal in single-cell RNA-seq data | |
Gao et al. | Haplotype-enhanced inference of somatic copy number profiles from single-cell transcriptomes | |
Lebo et al. | Bioinformatics in clinical genomic sequencing | |
Ainscough | Knowledge Driven Approaches and Machine Learning Improve the Identification of Clinically Relevant Somatic Mutations in Cancer Genomics | |
US20240371466A1 (en) | Method and system for newborn screening for genetic diseases by whole genome sequencing | |
Barnell | Bioinformatic Tools to Alleviate the Annotation Bottleneck within Precision Oncology | |
Royo Garrido | Development and application of methodologies and infrastructures for cancer genome analysis within Personalized Medicine | |
Bonfiglio et al. | Best practices for germline variant and DNA methylation analysis of second-and third-generation sequencing data | |
Elias et al. | The Role of Integrated Bioinformatics in Cancer Research: Transforming Genomic Insights into Precision Medicine | |
Guan et al. | SAFE-MIL: a statistically interpretable framework for screening potential targeted therapy patients based on risk estimation | |
Abrams | A Translational Bioinformatics Approach to Parsing and Mapping ISCN Karyotypes: a Computational Cytogenetic Analysis of Chronic Lymphocytic Leukemia (CLL) | |
WO2022261515A1 (en) | Method and system for improved management of genetic diseases | |
WO2022159774A2 (en) | METHODS AND SYSTEMS FOR mRNA BOUNDARY ANALYSIS IN NEXT GENERATION SEQUENCING | |
Fuligni | Highly Sensitive and Specific Method for Detection of Clinically Relevant Fusion Genes across Cancer | |
Wagner | Computational methods for identification of disease-associated variations in exome sequencing |