An et al., 2024 - Google Patents
Research needs for birth defect prevention and control in China in the genomic screening eraAn et al., 2024
View PDF- Document ID
- 2987843441736012637
- Author
- An Y
- Shen Y
- Ma Y
- Wang H
- Publication year
- Publication venue
- bmj
External Links
Snippet
Research needs for birth defect prevention and control in China in the genomic screening era
Page 1 the bmj | BMJ 2024;386:e078637 | doi: 10.1136/bmj-2023-078637 12 ProMoting
WoMen's HealtH in CHina Research needs for birth defect prevention and control in China in …
- 208000032170 Congenital Abnormalities 0 title abstract description 32
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
- G06F19/30—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
-
- 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
- G06F19/30—Medical informatics, i.e. computer-based analysis or dissemination of patient or disease data
- G06F19/36—Computer-assisted acquisition of medical data, e.g. computerised clinical trials or questionnaires
-
- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N33/00—Investigating or analysing materials by specific methods not covered by the preceding groups
- G01N33/48—Investigating or analysing materials by specific methods not covered by the preceding groups biological material, e.g. blood, urine; Haemocytometers
- G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
- G01N33/5005—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells
-
- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N33/00—Investigating or analysing materials by specific methods not covered by the preceding groups
- G01N33/48—Investigating or analysing materials by specific methods not covered by the preceding groups biological material, e.g. blood, urine; Haemocytometers
- G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
- G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
-
- 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
- G06Q50/24—Patient record management
-
- 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
-
- 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
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| Bodian et al. | Utility of whole-genome sequencing for detection of newborn screening disorders in a population cohort of 1,696 neonates | |
| Best et al. | Promises, pitfalls and practicalities of prenatal whole exome sequencing | |
| Bick et al. | Whole exome and whole genome sequencing | |
| Rehm | Disease-targeted sequencing: a cornerstone in the clinic | |
| International Society for Prenatal Diagnosis et al. | Joint Position Statement from the International Society for Prenatal Diagnosis (ISPD), the Society for Maternal Fetal Medicine (SMFM), and the Perinatal Quality Foundation (PQF) on the use of genome‐wide sequencing for fetal diagnosis | |
| Daoud et al. | Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unit | |
| Cecil et al. | Environmental risk, Oxytocin Receptor Gene (OXTR) methylation and youth callous-unemotional traits: a 13-year longitudinal study | |
| Schaefer et al. | Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions | |
| Vora et al. | Prenatal exome and genome sequencing for fetal structural abnormalities | |
| Darilek et al. | Pre-and postnatal genetic testing by array-comparative genomic hybridization: genetic counseling perspectives | |
| Guo et al. | Concurrent hearing and genetic screening in a general newborn population | |
| Li et al. | The prevalence of spinal muscular atrophy carrier in China: Evidences from epidemiological surveys | |
| Boemer et al. | Population-based, first-tier genomic newborn screening in the maternity ward | |
| Bhatia et al. | Singapore undiagnosed disease program: genomic analysis aids diagnosis and clinical management | |
| Rouxel et al. | CDK13-related disorder: Report of a series of 18 previously unpublished individuals and description of an epigenetic signature | |
| She et al. | Genetic testing in fetuses with isolated agenesis of the corpus callosum | |
| Lu et al. | Estimating the frequency of causal genetic variants in foetuses with congenital heart defects: a Chinese cohort study | |
| Williams et al. | Association of congenital cardiovascular malformation and neuropsychiatric phenotypes with 15q11. 2 (BP1–BP2) deletion in the UK Biobank | |
| An et al. | Research needs for birth defect prevention and control in China in the genomic screening era | |
| Chen et al. | Phenotype driven molecular genetic test recommendation for diagnosing pediatric rare disorders | |
| Sugawara et al. | Maternity Log study: a longitudinal lifelog monitoring and multiomics analysis for the early prediction of complicated pregnancy | |
| Soden et al. | Genomic medicine: evolving science, evolving ethics | |
| Feben et al. | Phenotypic consequences in black South African Fanconi anemia patients homozygous for a founder mutation | |
| Xue et al. | Prenatal diagnosis of fetal skeletal anomalies via whole-exome sequencing in a tertiary referral center | |
| Qian et al. | SNV/Indel and CNV Analysis in Trio‐WES for Intellectual and Developmental Disabilities: Diagnostic Yield & Cost‐Effectiveness |