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Related Concept Videos

Concepts and Prototypes01:24

Concepts and Prototypes

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The human nervous system handles vast amounts of information by translating sensory stimuli into neural impulses, which the brain processes, creating thoughts expressed through language or stored as memories. The brain also synthesizes information from emotions and memories, which significantly influence thoughts and behaviors. This intricate process creates a comprehensive mental picture.
The brain organizes this information using concepts, which are mental categories grouping linguistic data,...
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Genomics02:02

Genomics

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Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
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Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

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Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
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Genome Size and the Evolution of New Genes03:21

Genome Size and the Evolution of New Genes

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While every living organism has a genome of some kind (be it RNA, or DNA), there is considerable variation in the sizes of these blueprints. One major factor that impacts genome size is whether the organism is prokaryotic or eukaryotic. In prokaryotes, the genome contains little to no non-coding sequence, such that genes are tightly clustered in groups or operons sequentially along the chromosome. Conversely, the genes in eukaryotes are punctuated by long stretches of non-coding sequence.
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Comparing Mitochondrial, Chloroplast, and Prokaryotic Genomes02:16

Comparing Mitochondrial, Chloroplast, and Prokaryotic Genomes

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The present-day mitochondrial and chloroplast genomes have retained some of the characteristics of their ancestral prokaryotes and also have acquired new attributes during their evolution within eukaryotic cells. Like prokaryotic genomes, mitochondrial and chloroplast genomes neither bind with histone-like proteins nor show complex packaging into chromosome-like structures, as observed in eukaryotes. Unlike mitotic cell divisions observed in eukaryotic cells, mitochondria and chloroplasts...
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Genomic DNA in Prokaryotes00:46

Genomic DNA in Prokaryotes

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The genome of most prokaryotic organisms consists of double-stranded DNA organized into one circular chromosome in a region of cytoplasm called the nucleoid. The chromosome is tightly wound, or supercoiled, for efficient storage. Prokaryotes also contain other circular pieces of DNA called plasmids. These plasmids are smaller than the chromosome and often carry genes that confer adaptive functions, such as antibiotic resistance.
Genomic Diversity in Bacteria
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A SMART on FHIR Prototype for Genomic Test Ordering.

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Queensland Genomics

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Area of Science:

  • Clinical genomics
  • Health informatics
  • Genomic testing infrastructure

Background:

  • Genomic testing integration into clinical practice necessitates robust health system infrastructure.
  • Effective ordering of genomic tests requires enhanced information exchange between clinicians and laboratories.
  • Understanding information flow is crucial for genomic, phenotypic, and clinical data management.

Purpose of the Study:

  • To demonstrate the benefits of genomics in clinical practice through Clinical Demonstration Projects (CDPs).
  • To understand the information flow and data utilization across genomic test ordering, analysis, and reporting.
  • To define requirements for a genomics test ordering and reporting system.

Main Methods:

  • Clinical Demonstration Projects (CDPs) were conducted to assess genomics integration.
  • Information flow analysis was performed across test ordering, analysis, and reporting stages.
  • A prototype genomics test ordering and reporting system was developed as a SMART on FHIR application.

Main Results:

  • The CDPs provided insights into the practical benefits of clinical genomics.
  • A comprehensive understanding of information flow and data requirements was achieved.
  • A functional prototype system was developed, informing future production system requirements.

Conclusions:

  • Clinical genomics integration requires dedicated health system infrastructure and improved data exchange.
  • The developed prototype system, based on SMART on FHIR, offers a foundation for future production systems.
  • Further development of FHIR Resources, software interfaces, and interoperability is essential for scalable genomic testing systems.