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unit 4 (2).pptx medical informatics lecture notes | PPTX
Bioinformatics Databases
• Bioinformatics is defined as, “the use of computer to store,
retrieve, analyse or predict the composition or structure of
bio-molecules” .
• Bioinformatics is the application of computational techniques
and information technology to the organisation and
management of biological data.
• Classical bioinformatics deals primarily with sequence
analysis.
Aims of bioinformatics
• Development of database containing all biological information.
• Development of better tools for data designing, annotation and
mining.
• Design and development of drugs by using simulation software.
• Design and development of software tools for protein structure
prediction function, annotation and docking analysis.
• Creation and development of software to improve tools for analysing
sequences for their function and similarity with other sequences
Applications of bioinformatics
Bio-information technologies
• Bio information technologies are a subset of biotechnology
that focuses on the application of computer technology and
information science to manage, analyze, and interpret
biological data.
• This field combines computer science, mathematics, and
biology to develop algorithms, statistical models, and
software tools for understanding biological systems.
Key Bioinformation Technologies:
• Genomics: Study of genome structure, function, and evolution.
• Proteomics: Study of protein structure, function, and interactions.
• Bioinformatics: Development of algorithms and statistical models
for biological data analysis.
• Computational Biology: Application of computational methods to
model biological systems.
• Systems Biology: Study of complex biological systems and their
interactions.
• Synthetic Biology: Design and construction of new biological
systems.
• Transcriptomics: Study of RNA expression and regulation.
• Metagenomics: Study of microbial communities and their genomes.
• Epigenomics: Study of gene regulation and epigenetic
modifications.
• Pharmacogenomics: Study of genetic variation and drug response.
Applications of Bioinformation Technologies
• Personalized Medicine: Tailored medical treatment based on individual
genetic profiles.
• Gene Therapy: Treatment of genetic disorders through gene modification.
• Cancer Research: Identification of cancer biomarkers and therapeutic
targets.
• Infectious Disease Research: Development of vaccines and therapies.
• Agricultural Biotechnology: Improvement of crop yields and disease
resistance.
• Forensic Analysis: Use of DNA profiling in criminal investigations.
• Gene Editing: Precise modification of genes using CRISPR/Cas9.
• Synthetic Biology: Design of new biological pathways and organisms.
• Biofuel Development: Microbial production of renewable energy sources.
• Biodefense: Development of countermeasures against biological threats.
Tools and Software
• BLAST: Sequence alignment and similarity search.
• GenBank: Comprehensive DNA database.
• UniProt: Protein database.
• PDB: Protein structure database.
• R: Statistical programming language.
• Bioconductor: Open-source software for genomic
analysis.
• Bowtie: Short-read alignment software.
• SAMtools: Sequence alignment and variant calling.
• Cytoscape: Network visualization and analysis.
• Genome Browser: Interactive genome visualization.
Semantic web and Bioinformatics
Semantic Web
• The semantic web is an extension of the traditional web, enabling
machines to understand and interpret the meaning of data.
• It's built on technologies like:
 Resource Description Framework (RDF)
 Ontologies (e.g., OWL)
 Linked Data
• These technologies allow data to be structured, linked, and
queried, facilitating machine reasoning and inference.
• Bioinformatics is the application of computational tools and
methods to analyze and interpret biological data.
Intersection of Semantic Web and
Bioinformatics
The integration of semantic web technologies and bioinformatics enables:
• Standardized data representation: Ontologies provide a common
language for describing biological concepts and relationships.
• Data integration: Linked data enables the connection of disparate
biological datasets, facilitating comprehensive analysis.
• Reasoning and inference: Semantic web technologies allow machines to
infer new knowledge from existing data.
• Improved data retrieval: SPARQL queries enable efficient retrieval of
specific biological data.
Applications
• Genome annotation: Semantic web technologies help
annotate genomic regions with functional information.
• Protein function prediction: Integrated data and reasoning
enable prediction of protein functions.
• Disease modeling: Semantic web-based models integrate
data on disease mechanisms and pathways.
• Personalized medicine: Integrated genomic and clinical data
enable personalized treatment recommendations.
Genome projects
• Genome projects are scientific endeavors that aim to
sequence, assemble, and analyze the complete genetic
material (genome) of an organism.
Types of Genome Projects:
• Whole Genome Sequencing (WGS): Determining the
complete DNA sequence of an organism's genome.
• Exome Sequencing: Focusing on protein-coding regions
(exons) of the genome.
• Transcriptome Sequencing: Analyzing RNA transcripts to
understand gene expression.
• Epigenome Sequencing: Studying modifications to DNA or
histone proteins.
Key Applications:
• Personalized Medicine: Tailoring treatments based on
individual genetic profiles.
• Genetic Disease Diagnosis: Identifying genetic causes of
diseases.
• Crop Improvement: Developing disease-resistant and
climate-resilient crops.
• Synthetic Biology: Designing new biological pathways and
organisms.
• Forensic Analysis: Using genetic data for identification and
crime solving.
Clinical informatics
• Clinical informatics is the application of
informatics and information technology to improve
healthcare delivery, advancing the quality, safety,
and efficiency of patient care.
Key Components
• Health Information Systems: Electronic Health Records (EHRs),
Picture Archiving and Communication Systems (PACS), and Health
Information Exchanges (HIEs).
• Clinical Decision Support Systems: Providing healthcare
professionals with real-time, evidence-based guidance.
• Data Analytics: Analyzing healthcare data to identify trends, risks,
and opportunities.
• Telemedicine: Remote healthcare delivery using digital
technologies.
• Medical Imaging Informatics: Managing and analyzing medical
images.
• Pharmacoinformatics: Optimizing medication management.
• Public Health Informatics: Applying informatics to population
health.
Applications
• Electronic Health Records (EHRs): Standardizing patient
data.
• Clinical Decision Support (CDS): Guiding diagnosis and
treatment.
• Computerized Physician Order Entry (CPOE): Reducing
medication errors.
• Telehealth: Expanding access to healthcare.
• Predictive Analytics: Identifying high-risk patients.
• Personalized Medicine: Tailoring treatments based on
genetic profiles.
• Disease Surveillance: Monitoring and responding to
outbreaks.
Nursing informatics
• Nursing informatics is a specialty that
integrates nursing science, computer
science, and information science to design,
develop, and implement information
systems that support nursing practice,
education, and research.
Scope
• Clinical Decision Support: Developing systems to aid
nurses in decision-making.
• Electronic Health Records (EHRs): Designing and
optimizing EHRs for nursing.
• Telehealth: Expanding access to nursing care through
digital technologies.
• Data Analytics: Analyzing nursing data to improve
patient outcomes.
• Patient Engagement: Empowering patients through
health information technology.
• Nursing Education: Developing informatics-based
educational tools.
• Research: Conducting studies on nursing informatics
innovations.
Key Concepts
• Standardized Nursing Languages: Using
standardized languages (e.g., SNOMED-CT) to
document nursing care.
• Nursing Taxonomies: Organizing nursing data
using taxonomies (e.g., NANDA-I).
• Health Information Exchange (HIE): Sharing
patient data across healthcare settings.
• User-Centered Design: Designing systems that
meet nurses' needs.
• Interoperability: Ensuring seamless data
exchange between systems.
public health informatics
Public Health Informatics (PHI) is the application of
information technology and information systems to
improve public health practice, research, and
policy. It aims to prevent disease, promote health,
and protect populations.
Scope
• Surveillance : Monitoring and analyzing health data to
identify trends and outbreaks.
• Epidemiology : Investigating disease patterns and causes.
• Health Education : Developing digital interventions to
promote healthy behaviors.
• Healthcare Access : Improving access to healthcare
services.
• Global Health : Addressing health disparities and
inequities worldwide.
• Emergency Preparedness : Responding to natural
disasters and public health emergencies.
• Environmental Health : Monitoring and mitigating
environmental health hazards.
Key Concepts
• Health Information Exchange (HIE) :
Sharing data across healthcare settings.
• Disease Surveillance Systems : Monitoring
disease outbreaks (e.g., CDC's National
Notifiable Diseases Surveillance System).
• Geographic Information Systems (GIS) :
Analyzing spatial health data.
• Social Determinants of Health : Addressing
non-medical factors influencing health.
• Digital Health Equity : Ensuring equal
access to digital health resources.

unit 4 (2).pptx medical informatics lecture notes

  • 1.
  • 2.
    • Bioinformatics isdefined as, “the use of computer to store, retrieve, analyse or predict the composition or structure of bio-molecules” . • Bioinformatics is the application of computational techniques and information technology to the organisation and management of biological data. • Classical bioinformatics deals primarily with sequence analysis.
  • 3.
    Aims of bioinformatics •Development of database containing all biological information. • Development of better tools for data designing, annotation and mining. • Design and development of drugs by using simulation software. • Design and development of software tools for protein structure prediction function, annotation and docking analysis. • Creation and development of software to improve tools for analysing sequences for their function and similarity with other sequences
  • 4.
  • 5.
  • 6.
    • Bio informationtechnologies are a subset of biotechnology that focuses on the application of computer technology and information science to manage, analyze, and interpret biological data. • This field combines computer science, mathematics, and biology to develop algorithms, statistical models, and software tools for understanding biological systems.
  • 7.
    Key Bioinformation Technologies: •Genomics: Study of genome structure, function, and evolution. • Proteomics: Study of protein structure, function, and interactions. • Bioinformatics: Development of algorithms and statistical models for biological data analysis. • Computational Biology: Application of computational methods to model biological systems. • Systems Biology: Study of complex biological systems and their interactions. • Synthetic Biology: Design and construction of new biological systems. • Transcriptomics: Study of RNA expression and regulation. • Metagenomics: Study of microbial communities and their genomes. • Epigenomics: Study of gene regulation and epigenetic modifications. • Pharmacogenomics: Study of genetic variation and drug response.
  • 8.
    Applications of BioinformationTechnologies • Personalized Medicine: Tailored medical treatment based on individual genetic profiles. • Gene Therapy: Treatment of genetic disorders through gene modification. • Cancer Research: Identification of cancer biomarkers and therapeutic targets. • Infectious Disease Research: Development of vaccines and therapies. • Agricultural Biotechnology: Improvement of crop yields and disease resistance. • Forensic Analysis: Use of DNA profiling in criminal investigations. • Gene Editing: Precise modification of genes using CRISPR/Cas9. • Synthetic Biology: Design of new biological pathways and organisms. • Biofuel Development: Microbial production of renewable energy sources. • Biodefense: Development of countermeasures against biological threats.
  • 9.
    Tools and Software •BLAST: Sequence alignment and similarity search. • GenBank: Comprehensive DNA database. • UniProt: Protein database. • PDB: Protein structure database. • R: Statistical programming language. • Bioconductor: Open-source software for genomic analysis. • Bowtie: Short-read alignment software. • SAMtools: Sequence alignment and variant calling. • Cytoscape: Network visualization and analysis. • Genome Browser: Interactive genome visualization.
  • 10.
    Semantic web andBioinformatics
  • 11.
    Semantic Web • Thesemantic web is an extension of the traditional web, enabling machines to understand and interpret the meaning of data. • It's built on technologies like:  Resource Description Framework (RDF)  Ontologies (e.g., OWL)  Linked Data • These technologies allow data to be structured, linked, and queried, facilitating machine reasoning and inference. • Bioinformatics is the application of computational tools and methods to analyze and interpret biological data.
  • 12.
    Intersection of SemanticWeb and Bioinformatics The integration of semantic web technologies and bioinformatics enables: • Standardized data representation: Ontologies provide a common language for describing biological concepts and relationships. • Data integration: Linked data enables the connection of disparate biological datasets, facilitating comprehensive analysis. • Reasoning and inference: Semantic web technologies allow machines to infer new knowledge from existing data. • Improved data retrieval: SPARQL queries enable efficient retrieval of specific biological data.
  • 13.
    Applications • Genome annotation:Semantic web technologies help annotate genomic regions with functional information. • Protein function prediction: Integrated data and reasoning enable prediction of protein functions. • Disease modeling: Semantic web-based models integrate data on disease mechanisms and pathways. • Personalized medicine: Integrated genomic and clinical data enable personalized treatment recommendations.
  • 14.
  • 15.
    • Genome projectsare scientific endeavors that aim to sequence, assemble, and analyze the complete genetic material (genome) of an organism. Types of Genome Projects: • Whole Genome Sequencing (WGS): Determining the complete DNA sequence of an organism's genome. • Exome Sequencing: Focusing on protein-coding regions (exons) of the genome. • Transcriptome Sequencing: Analyzing RNA transcripts to understand gene expression. • Epigenome Sequencing: Studying modifications to DNA or histone proteins.
  • 16.
    Key Applications: • PersonalizedMedicine: Tailoring treatments based on individual genetic profiles. • Genetic Disease Diagnosis: Identifying genetic causes of diseases. • Crop Improvement: Developing disease-resistant and climate-resilient crops. • Synthetic Biology: Designing new biological pathways and organisms. • Forensic Analysis: Using genetic data for identification and crime solving.
  • 17.
  • 18.
    • Clinical informaticsis the application of informatics and information technology to improve healthcare delivery, advancing the quality, safety, and efficiency of patient care.
  • 19.
    Key Components • HealthInformation Systems: Electronic Health Records (EHRs), Picture Archiving and Communication Systems (PACS), and Health Information Exchanges (HIEs). • Clinical Decision Support Systems: Providing healthcare professionals with real-time, evidence-based guidance. • Data Analytics: Analyzing healthcare data to identify trends, risks, and opportunities. • Telemedicine: Remote healthcare delivery using digital technologies. • Medical Imaging Informatics: Managing and analyzing medical images. • Pharmacoinformatics: Optimizing medication management. • Public Health Informatics: Applying informatics to population health.
  • 20.
    Applications • Electronic HealthRecords (EHRs): Standardizing patient data. • Clinical Decision Support (CDS): Guiding diagnosis and treatment. • Computerized Physician Order Entry (CPOE): Reducing medication errors. • Telehealth: Expanding access to healthcare. • Predictive Analytics: Identifying high-risk patients. • Personalized Medicine: Tailoring treatments based on genetic profiles. • Disease Surveillance: Monitoring and responding to outbreaks.
  • 21.
  • 22.
    • Nursing informaticsis a specialty that integrates nursing science, computer science, and information science to design, develop, and implement information systems that support nursing practice, education, and research.
  • 23.
    Scope • Clinical DecisionSupport: Developing systems to aid nurses in decision-making. • Electronic Health Records (EHRs): Designing and optimizing EHRs for nursing. • Telehealth: Expanding access to nursing care through digital technologies. • Data Analytics: Analyzing nursing data to improve patient outcomes. • Patient Engagement: Empowering patients through health information technology. • Nursing Education: Developing informatics-based educational tools. • Research: Conducting studies on nursing informatics innovations.
  • 24.
    Key Concepts • StandardizedNursing Languages: Using standardized languages (e.g., SNOMED-CT) to document nursing care. • Nursing Taxonomies: Organizing nursing data using taxonomies (e.g., NANDA-I). • Health Information Exchange (HIE): Sharing patient data across healthcare settings. • User-Centered Design: Designing systems that meet nurses' needs. • Interoperability: Ensuring seamless data exchange between systems.
  • 25.
  • 26.
    Public Health Informatics(PHI) is the application of information technology and information systems to improve public health practice, research, and policy. It aims to prevent disease, promote health, and protect populations.
  • 27.
    Scope • Surveillance :Monitoring and analyzing health data to identify trends and outbreaks. • Epidemiology : Investigating disease patterns and causes. • Health Education : Developing digital interventions to promote healthy behaviors. • Healthcare Access : Improving access to healthcare services. • Global Health : Addressing health disparities and inequities worldwide. • Emergency Preparedness : Responding to natural disasters and public health emergencies. • Environmental Health : Monitoring and mitigating environmental health hazards.
  • 28.
    Key Concepts • HealthInformation Exchange (HIE) : Sharing data across healthcare settings. • Disease Surveillance Systems : Monitoring disease outbreaks (e.g., CDC's National Notifiable Diseases Surveillance System). • Geographic Information Systems (GIS) : Analyzing spatial health data. • Social Determinants of Health : Addressing non-medical factors influencing health. • Digital Health Equity : Ensuring equal access to digital health resources.