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Related Concept Videos

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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Issues And Trends In Healthcare Delivery System01:29

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The issues and trends in healthcare delivery are constantly changing. The COVID-19 pandemic is one recent issue that wreaked havoc on healthcare systems, causing a shortage of healthcare workers, high demand for medicines and supplies, and increased medical expenditure due to a lack of insurance. Other issues include rising healthcare costs and care fragmentation.
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Methods of Documentation VII: EMR01:30

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Electronic Medical Records (EMRs) primarily center around electronically documenting patients' health information within a single healthcare organization or practice. They contain essential clinical data related to a patient's medical history, diagnoses, medications, treatment plans, lab results, and other pertinent information relevant to the specific encounter or episode of care. EMRs are designed to streamline documentation and workflow processes within individual healthcare...
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Genome-wide Association Studies-GWAS01:11

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Evolutionary Relationships through Genome Comparisons02:54

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Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Using the electronic health record for genomics research.

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Electronic health records (EHR) offer valuable data for genomics research, particularly for heritable lipid disorders. Linking EHR to genomic data accelerates discovery and improves clinical care.

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Area of Science:

  • Genomic Medicine
  • Translational Research
  • Health Informatics

Background:

  • Electronic health records (EHR) are primarily used for medical documentation and billing.
  • EHR systems possess significant untapped potential for advancing translational research.

Purpose of the Study:

  • To provide an overview of EHR utilization in genomics research.
  • To focus on the application of EHR in studying heritable lipid disorders.

Main Methods:

  • Linking EHR data with genomic datasets.
  • Leveraging EHR phenotype data for genomic discovery.
  • Utilizing EHR for cohort assembly in genomic medicine clinical trials.

Main Results:

  • EHR data enables the study of genetic underpinnings for common and rare diseases.
  • Facilitates identification of disease subphenotypes and assessment of genomic variant pathogenicity.
  • Informs clinical practice through applications like polygenic risk scores and rare variant interpretation.

Conclusions:

  • The EHR, when integrated with genomic data, acts as a powerful resource for genomic discovery.
  • This integration fosters a learning healthcare system, where research findings directly inform clinical practice.