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Related Concept Videos

Human Genetics01:28

Human Genetics

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.
The complex relationship between genetics and psychology is observable through common biological components such...
Statistical Software for Data Analysis and Clinical Trials01:12

Statistical Software for Data Analysis and Clinical Trials

Statistical software is pivotal in data analysis and clinical trials by providing tools to analyze data, draw conclusions, and make predictions. These software packages range from simple data management applications to complex analytical platforms, supporting various statistical tests, models, and simulation techniques. Their significance lies in their ability to handle vast amounts of data with precision and efficiency, enabling researchers to validate hypotheses, identify trends, and make...
Genetic Screens02:46

Genetic Screens

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.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
Genomics02:02

Genomics

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...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...
Karyotyping01:17

Karyotyping

Describing the number and physical features of chromosomes can reveal abnormalities that underlie genetic diseases. This description is facilitated by special staining techniques that produce a particular banding pattern on each chromosome. State-of-the-art techniques make this approach even more powerful, enabling the detection of individual genes that cause disease.A Simple Chromosome Staining Technique Provides Valuable Scientific InsightSome genetic diseases can be detected by looking at...

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Related Experiment Video

Updated: Jun 3, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

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

Published on: June 21, 2018

CGEN--a Clinical GENetics software application.

Pål Møller1, Neal Clark

  • 1Norwegian Radium Hospital, Section of Cancer Genetics, Oslo, Norway. moller.pal@gmail.com

Human Mutation
|March 10, 2011
PubMed
Summary

Clinical GENetics (CGEN) software aids genetic clinics in collecting organized, verified data for research. It facilitates secure data exchange between clinics and repositories, supporting collaborative genetic studies.

Area of Science:

  • Bioinformatics
  • Genetics
  • Health Informatics

Background:

  • Genetic research requires well-organized and verified data.
  • Existing IT solutions may not adequately address the specific needs of genetic clinics.
  • Data sharing and collaboration are crucial for advancing genetic research.

Purpose of the Study:

  • To describe the functionality and IT requirements of the Clinical GENetics (CGEN) software.
  • To highlight CGEN's capabilities for managing genetic data within clinics.
  • To emphasize CGEN's potential for facilitating collaborative data exchange.

Main Methods:

  • The article details the features and technical specifications of the CGEN software.
  • It outlines the necessary IT infrastructure for CGEN implementation.

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Infinium Assay for Large-scale SNP Genotyping Applications
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Infinium Assay for Large-scale SNP Genotyping Applications

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

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Infinium Assay for Large-scale SNP Genotyping Applications

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  • The unique data management and sharing capabilities of CGEN are discussed.
  • Main Results:

    • CGEN provides a robust system for collecting and managing genetic data.
    • The software is designed to meet the IT demands of genetic clinics.
    • CGEN offers a platform for secure and efficient data exchange.

    Conclusions:

    • CGEN is a valuable IT solution for genetic clinics, enhancing data organization and verification.
    • The software supports collaborative research through its data exchange features.
    • CGEN is positioned as a potential data collection tool for initiatives like The Human Variome Project.