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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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Human Genetics01:28

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
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Related Experiment Video

Updated: Jan 13, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Leveraging PCORnet® to Advance Clinical Genetics and the Genomic Learning Health System.

Russell L Rothman1, Josh Peterson2, Sunil Kripalani3

  • 1Institute for Population and Public Health, Vanderbilt University Medical Center, Nashville, TN.

Medical Care
|January 8, 2026
PubMed
Summary

Genomic research in the national PCORnet® network aids in predicting health outcomes and optimizing treatments. This large patient network facilitates studies on genetics, pharmacogenomics, and gene therapies for improved healthcare.

Keywords:
PCORnetcomparative clinical effectiveness researchgeneticsgenomicsreal-world evidence research

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Area of Science:

  • Genomic Medicine
  • Translational Bioinformatics
  • Health Services Research

Background:

  • Advances in genetics and genomics are increasing clinical applications for disease prevention, diagnosis, and treatment.
  • The PCORnet® network, with 78 health systems and over 47 million patients, offers a vast resource for genetic and genomic research.

Purpose of the Study:

  • To leverage the PCORnet® infrastructure to understand the predictive ability of genetics/genomics for health outcomes.
  • To identify diseases influenced by genetic/genomic factors and evaluate pharmacogenomics for medication optimization.
  • To assess emerging gene therapies and compare clinical genetic/genomic strategies within learning health systems.

Main Methods:

  • Utilizing PCORnet®'s extensive electronic health record data and patient population for predictive modeling.
  • Leveraging computable phenotypes to evaluate the role of genetics/genomics in various health conditions.
  • Recruiting patients for observational cohorts and pragmatic clinical trials on pharmacogenomics and gene therapies.

Main Results:

  • PCORnet® provides a unique opportunity to study genetic markers, clinical factors, and exposome-based disease risks.
  • The network's infrastructure supports comparative effectiveness research and the evaluation of clinical genetics/genomics implementation.
  • Partner engagement within PCORnet® enhances research, healthcare delivery, and patient outcomes.

Conclusions:

  • The PCORnet® network is well-positioned to lead advancements in clinical genetics and genomics.
  • Genomic data integration within large networks like PCORnet® is crucial for personalized medicine and improved health outcomes.
  • The study highlights the transformative potential of genetics and genomics in healthcare over the next decade.