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Related Concept Videos

Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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...
Pedigree Analysis01:35

Pedigree Analysis

Overview
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Evolutionary Relationships through Genome Comparisons02:54

Evolutionary Relationships through Genome Comparisons

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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Related Experiment Video

Updated: Jun 3, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Disease and phenotype data at Ensembl.

Giulietta M Spudich1, Xosé M Fernández-Suárez

  • 1EMBL-European Bioinformatics Institute, Cambridge, United Kingdom.

Current Protocols in Human Genetics
|March 15, 2011
PubMed
Summary
This summary is machine-generated.

Ensembl provides a unified access point to multiple biological databases, simplifying research on human genetic diseases. This genome browser integrates data for efficient exploration of genomic information.

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Related Experiment Videos

Last Updated: Jun 3, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
09:37

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

Published on: August 15, 2019

Area of Science:

  • Genomics
  • Bioinformatics
  • Human Genetics

Background:

  • Biological databases are crucial for life sciences research, but accessing numerous resources is challenging.
  • Integrating diverse molecular biology and human disease data into a single platform is essential for researchers.

Purpose of the Study:

  • To introduce the Ensembl genome browser as a unified access point for biological data.
  • To demonstrate the utility of Ensembl for human genetic disease research through example queries.

Main Methods:

  • Utilizing the Ensembl genome browser as a single entry point with a Graphical User Interface.
  • Integrating data from multiple projects, including OMIM, dbSNP, and the NHGRI GWAS catalog.
  • Employing the BioMart tool for efficient sequence export.

Main Results:

  • Ensembl offers comprehensive annotation for the human genome and other species of biomedical interest.
  • Example queries showcase the browser's application in human genetic disease research.
  • BioMart facilitates rapid sequence data retrieval.

Conclusions:

  • Ensembl serves as a vital, integrated resource for the life sciences community.
  • The Ensembl genome browser streamlines access to complex genomic data for disease research.
  • Efficient data retrieval tools like BioMart enhance the usability of Ensembl.