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Related Concept Videos

Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

62
The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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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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...
41.1K
Pharmacogenetics and Pharmacogenomics: Overview01:29

Pharmacogenetics and Pharmacogenomics: Overview

84
Pharmacogenetics and pharmacogenomics examine how genetic factors influence an individual's response to drugs. While pharmacogenetics focuses on the impact of specific genetic variants on drug effects, pharmacogenomics takes a broader approach, studying how genetic variation across populations contributes to differences in drug responses. These fields aim to explain why individuals may experience varying levels of efficacy or adverse reactions to the same medication.Variability in drug...
84
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

18.9K
Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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Related Experiment Video

Updated: Mar 3, 2026

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

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QueryOR: a comprehensive web platform for genetic variant analysis and prioritization.

Loris Bertoldi1, Claudio Forcato1, Nicola Vitulo1,2

  • 1CRIBI Biotechnology Centre, University of Padua, Padua, Italy.

BMC Bioinformatics
|April 30, 2017
PubMed
Summary
This summary is machine-generated.

QueryOR is a user-friendly web platform for analyzing human genetic variants. It facilitates the discovery of novel gene-disease associations and aids in variant prioritization for research.

Keywords:
Data integrationExome sequencingVariant annotationVariant prioritization

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Area of Science:

  • Genomics
  • Bioinformatics
  • Human Genetics

Background:

  • Whole genome and exome sequencing are rapidly advancing human genetic variant studies.
  • Accessible tools are crucial for analyzing the increasing volume of genetic data.

Purpose of the Study:

  • To introduce QueryOR, a versatile web platform for genetic variant analysis.
  • To enable searching for candidate genes and identifying novel gene-disease associations.

Main Methods:

  • QueryOR utilizes a flexible XML schema for integrating diverse data sources.
  • It supports up to 70 user-selectable criteria, including gene and variant features.
  • Prioritization employs a global positive selection process considering all transcript isoforms.

Main Results:

  • QueryOR offers a comprehensive, flexible, and intuitive interface for variant prioritization.
  • The platform supports analysis of single patients, families, and cohorts.
  • It effectively handles various inheritance patterns and variant sharing features.

Conclusions:

  • QueryOR is a powerful, user-driven web platform for variant prioritization.
  • Its flexibility and ease of use make it suitable for diverse genetic research applications.
  • The platform is freely available for academic use.