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Index

1000 Genomes catalog

The 1000 Genomes database provides a quick way to search up genetic variants in the genomes of humans. Since the first complete map of the human genome has been unraveled, with new sequencing techniques, the cost and speed of sequencing human genomes has drastically been reduced. Because of this, it is possible to sequence thousands of genomes of humans and discover the many variants of a single gene.

HistoryEdit

The 1000 genomes project was established after the first complete human genome was mapped. The project aimed to provide a foundation for investigating the relationship between genotype and phenotype. As of today, many people are still having their genomes sequenced and added to the database.

UtilityEdit

This site has many uses in the scientific community. First, it is used to understand and see the different variations of a gene in the human genome. Second, it is very useful in terms of finding regions of the DNA specific to a certain disease or trait. With the help of the database, researchers can use the variants in their studies and pinpoint the location of the disease or trait in question.

How it's usedEdit

  1. Go to 1000 Genomes

  2. Click on the “Browser” tab you will get to the Browser home page

Ensemblebrowser

2. Page to get to browser

3. Click on the browser link: 1000 Genomes Browser you will see the following search box in the top left of the page under the banner

Searchbox

3. Field to input a gene name/symbol/identifier

  4. Enter a gene name,  symbol or identifier and click go. It will take you to a page similar to picture 4.

Summary

4.Summary of results

5. Clicking on a gene in the search result page takes you to a gene page.

Clicking on “Variations in gene” link brings up a list of variations within the boundary of the gene

Clicking on a transcript in the search result page takes you to a transcript page

Clicking on a “Region in detail” link takes you to the Location View page for that region

References

1. 1000 Genomes Web Page

2. A map of human genome variation from population-scale sequencing

3. 1000 Genomes Pilot Paper (PDF download)