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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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Genetic Screens02:46

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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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DNA Microarrays02:34

DNA Microarrays

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Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
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Next-generation Sequencing03:00

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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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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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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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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

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Clinical genomicist workstation.

Mukesh K Sharma1, Joshua Phillips, Saurabh Agarwal

  • 1Dept. of Pathology and Immunology, Washington University in St. Louis, St. Louis, MO;

AMIA Joint Summits on Translational Science Proceedings. AMIA Joint Summits on Translational Science
|December 5, 2013
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Summary
This summary is machine-generated.

Clinical Genomicist Workstation (CGW) provides a comprehensive informatics solution for Next-Generation Sequencing (NGS) workflows. This tool supports cancer genomic testing from accessioning to reporting, enhancing clinical diagnostics.

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Area of Science:

  • Genomic Medicine
  • Bioinformatics
  • Clinical Pathology

Background:

  • Clinical application of Next-Generation Sequencing (NGS) requires robust informatics tools for end-to-end workflow management.
  • Existing systems may not adequately cover the entire process from sample handling to final report generation.

Purpose of the Study:

  • To develop and implement a comprehensive informatics solution, the Clinical Genomicist Workstation (CGW), for clinical genomic testing.
  • To support the complete workflow of clinical genomic diagnostics, including sample accessioning, data analysis, interpretation, and reporting.

Main Methods:

  • Development of CGW as a secure, n-tiered application utilizing a web browser interface and a relational database.
  • Implementation and utilization of CGW within Washington University's Genomic and Pathology Services for clinical genomic testing.

Main Results:

  • CGW has successfully accessioned, analyzed, and signed out over 409 clinical genomic testing cases since November 2011.
  • The system is actively used by 22 ordering oncologists and 7 clinical genomicists, demonstrating its utility and adoption.

Conclusions:

  • CGW offers a 'soup-to-nuts' solution for managing clinical genomic diagnostic tests.
  • The established system effectively streamlines the tracking, analysis, interpretation, and reporting of genomic data in a clinical setting.