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Related Concept Videos

Genomics02:02

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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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Related Experiment Video

Updated: Jun 30, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Genomes in clinical care.

Olaf Riess1,2,3, Marc Sturm4, Benita Menden4

  • 1Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. Olaf.riess@med.uni-tuebingen.de.

NPJ Genomic Medicine
|March 15, 2024
PubMed
Summary
This summary is machine-generated.

Implementing routine genome sequencing (GS) and predictive genomics in clinical settings is challenging. This study outlines key pillars and processes for institutional-level GS, offering a model for personalized health integration.

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Area of Science:

  • Genomic Medicine
  • Clinical Genomics
  • Precision Medicine Implementation

Background:

  • Genome sequencing (GS) is increasingly vital for precision medicine.
  • Scaling GS and genomics in clinical settings presents significant implementation challenges.

Purpose of the Study:

  • To identify essential pillars and processes for routine genome sequencing.
  • To facilitate the clinical implementation of predictive genomics and multi-omics.

Main Methods:

  • Presentation of two clinical implementation studies: Genome First and Ge-Med.
  • Analysis of experiences and lessons learned in test logistics, patient care, data reporting, and infrastructure.

Main Results:

  • Identification of critical components for scaling genome sequencing institutionally.
  • Development of a model for integrated clinical care and genomic analysis.

Conclusions:

  • A single-source model for clinical care and genomic analysis can facilitate omics-based personalized health.
  • The presented framework offers a scalable approach for other institutions to adopt routine GS.