Henden et al., 2020 - Google Patents
Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS casesHenden et al., 2020
View HTML- Document ID
- 9418749738121922897
- Author
- Henden L
- Twine N
- Szul P
- McCann E
- Nicholson G
- Rowe D
- Kiernan M
- Bauer D
- Blair I
- Williams K
- Publication year
- Publication venue
- NPJ genomic medicine
External Links
Snippet
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterised by the loss of upper and lower motor neurons resulting in paralysis and eventual death. Approximately 10% of ALS cases have a family history of disease, while the remainder …
- 108010021188 Superoxide Dismutase-1 0 title abstract description 119
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
- G06F19/30—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
- G06F19/30—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
- G06F19/322—Management of patient personal data, e.g. patient records, conversion of records or privacy aspects
-
- 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
- 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
-
- 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
- C12Q1/6813—Hybridisation assays
- C12Q1/6827—Hybridisation assays for mutation or polymorphism detection
-
- 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
-
- G—PHYSICS
- G06—COMPUTING; CALCULATING; COUNTING
- G06F—ELECTRICAL DIGITAL DATA PROCESSING
- G06F21/00—Security arrangements for protecting computers, components thereof, programs or data against unauthorised activity
-
- 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
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
Similar Documents
Publication | Publication Date | Title |
---|---|---|
Quinodoz et al. | AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data | |
Henden et al. | Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases | |
Koriath et al. | Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series | |
Katsanis et al. | Molecular genetic testing and the future of clinical genomics | |
Castel et al. | Tools and best practices for data processing in allelic expression analysis | |
Kishikawa et al. | Empirical evaluation of variant calling accuracy using ultra-deep whole-genome sequencing data | |
Heyne et al. | Mono-and biallelic variant effects on disease at biobank scale | |
Wong et al. | New observations on maternal age effect on germline de novo mutations | |
Arteche-López et al. | Sanger sequencing is no longer always necessary based on a single-center validation of 1109 NGS variants in 825 clinical exomes | |
Uddin et al. | Brain-expressed exons under purifying selection are enriched for de novo mutations in autism spectrum disorder | |
Xu et al. | Strong association of de novo copy number mutations with sporadic schizophrenia | |
Atik et al. | Comprehensive analysis of deafness genes in families with autosomal recessive nonsyndromic hearing loss | |
López-Mejías et al. | A genome-wide association study suggests the HLA Class II region as the major susceptibility locus for IgA vasculitis | |
Corton et al. | Exome sequencing of index patients with retinal dystrophies as a tool for molecular diagnosis | |
Berko et al. | Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder | |
Degner et al. | DNase I sensitivity QTLs are a major determinant of human expression variation | |
Kurki et al. | Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland | |
Woodbury-Smith et al. | Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes | |
Cheema et al. | Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility | |
Jiang et al. | FetalQuantSD: accurate quantification of fetal DNA fraction by shallow-depth sequencing of maternal plasma DNA | |
Howrigan et al. | Genome-wide autozygosity is associated with lower general cognitive ability | |
Reader et al. | Genome-wide studies of specific language impairment | |
Michaud et al. | The contribution of common regulatory and protein-coding TYR variants to the genetic architecture of albinism | |
Lee et al. | Discovering genetic factors for psoriasis through exhaustively searching for significant second order SNP-SNP interactions | |
Zahir et al. | Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability |