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Related Concept Videos

Genomics02:02

Genomics

35.6K
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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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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.
GWAS does not require the identification of the target gene involved in...
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Next-generation Sequencing03:00

Next-generation Sequencing

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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.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
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What is Population Genetics?01:25

What is Population Genetics?

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A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
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Related Experiment Video

Updated: May 24, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Comprehensive genomic profiling: a public health system perspective.

Themistoklis Paraskevas1, Michail Papapanou2, Theodoros N Sergentanis3

  • 1Department of Nephrology, University Hospital of Patras, Patras, Greece.

Expert Review of Molecular Diagnostics
|March 1, 2025
PubMed
Summary

Comprehensive genomic profiling (CGP) offers benefits in precision oncology but faces implementation challenges. Addressing patient, physician, and health economic factors is key to its successful integration.

Keywords:
Precision medicinediagnosisneoplasmnext generation sequencingpatient preferencereimbursement

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Area of Science:

  • Oncology
  • Genomics
  • Health Economics

Background:

  • Comprehensive genomic profiling (CGP) is an evolving tool in precision oncology for identifying actionable tumor alterations.
  • Integrating CGP into healthcare systems requires evaluating evidence and stakeholder collaboration.

Purpose of the Study:

  • To review the cost-effectiveness and feasibility of CGP in various healthcare settings.
  • To identify barriers to routine CGP implementation and propose solutions.

Main Methods:

  • Literature search of PubMed, Google Scholar, and gray literature.
  • Extensive snowballing for relevant studies.
  • Synthesis of findings on patient and physician perspectives, and health economic data.

Main Results:

  • Patients are satisfied with CGP, particularly when publicly funded, but face challenges with result interpretation and access to treatments.
  • Physicians are confident in using CGP for specific patient groups but note potential treatment delays.
  • Health economic studies indicate CGP is cost-effective, improving survival and reducing healthcare utilization.

Conclusions:

  • CGP has significant potential in precision oncology, supported by patient and economic data.
  • Barriers include reimbursement, accessibility, and the need for physician training.
  • Collaborative efforts and policy adjustments are crucial for widespread CGP adoption.