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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: May 8, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
09:30

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform

Published on: August 17, 2022

Bringing genome tests into clinical practice.

I N Sarkar1

  • 1Center for Clinical and Translational Science, University of Vermont, 89 Beaumont Avenue, Given Courtyard N309, Burlington, VT 05405 USA.

Yearbook of Medical Informatics
|August 27, 2013
PubMed
Summary
This summary is machine-generated.

Genomic data integration into electronic health records is advancing for clinical decision-making. Research also focuses on the clinical utility of genomic tests for future healthcare applications.

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Last Updated: May 8, 2026

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Area of Science:

  • Genomics in Medicine
  • Clinical Bioinformatics

Background:

  • The increasing volume of genomic data presents challenges and opportunities for clinical practice.
  • Translating genomic discoveries into actionable clinical insights is a key goal in modern healthcare.

Purpose of the Study:

  • To review recent advancements in applying genomic data within clinical settings.
  • To identify key trends in genomic data utilization from the past year (2012).

Main Methods:

  • A targeted literature review of scientific articles published in 2012.
  • Analysis focused on studies related to genomic data integration and clinical utility.

Main Results:

  • Two primary themes dominated 2012: integrating genomic data into electronic health records (EHRs) and assessing the clinical utility of genomic tests.
  • Progress was noted in developing systems for seamless genomic data incorporation into EHRs.

Conclusions:

  • Substantial progress is being made to integrate genomic data for improved clinical decision-making.
  • While genotype-phenotype research remains crucial, promising developments in clinically useful genomic tests are emerging for the near future.