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Related Concept Videos

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...
Statistical Software for Data Analysis and Clinical Trials01:12

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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...
Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...

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Related Experiment Video

Updated: May 16, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

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

Published on: April 4, 2018

Database tools in genetic diseases research.

Anna Monica Bianco1, Annalisa Marcuzzi1, Valentina Zanin1

  • 1Institute for Maternal and Child Health - IRCCS "Burlo Garofolo," Trieste, Italy.

Genomics
|November 14, 2012
PubMed
Summary

This review highlights bioinformatics databases crucial for genetic disorder research. These resources aid in managing genomic data and advancing complex disease studies.

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Area of Science:

  • Bioinformatics and Genomics
  • Human Genetics
  • Computational Biology

Background:

  • Human genome knowledge is rapidly expanding, necessitating advanced data management.
  • Numerous bioinformatics databases exist to connect global scientific discoveries.
  • Genetic disorders require specialized tools for comprehensive analysis.

Purpose of the Study:

  • To review bioinformatics resources and database tools for genetic disorder information dissemination.
  • To identify databases useful for managing genomic data, including sample sequences and gene expression.
  • To highlight databases relevant for genome-wide association studies (GWAS) and complex disease research.

Main Methods:

  • Literature review of existing bioinformatics databases.
  • Categorization of databases based on their utility in genetic disorder research.
  • Focus on databases supporting sample sequence management, gene expression, and post-transcriptional regulation analysis.
  • Identification of databases suitable for genome-wide association studies (GWAS) data.

Main Results:

  • A curated list of specialized bioinformatics databases for genetic disorders is presented.
  • Databases supporting management of sample sequences and gene expression data are detailed.
  • Resources for analyzing post-transcriptional regulation are identified.
  • Databases relevant for initiating complex disease studies using GWAS data are highlighted.

Conclusions:

  • Bioinformatics databases are essential for advancing the understanding of human genetic disorders.
  • These resources facilitate the management and analysis of complex genomic data.
  • The reviewed databases serve as valuable starting points for research into complex diseases with elusive causal genes.