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1000 Genomes Project

1000 Genomes Project

An initiative that created a public catalog of human variation and genotype data, which is freely accessible on public databases. 

From 2007 until 2015, the 1000 Genomes Project was conducted by researchers with the intention of measuring genetic differences that exist from person to person so that medical professionals can understand the function of genetic variation in health and illnesses. The stated goal was to describe most of the genetic variation that occurs at a population frequency greater than 1%. Researchers from the United States of America, The United Kingdom, China, and Germany collaborated to create the catalog. The number 1000 refers to the number of genomes that were sequenced from unidentified individuals from around the world.

Project

There were several phases to this project, with the number of participants increasing as phases passed. The final phase consisted of more than 2,00 participants and the genotypes were obtained by whole-genome sequencing, deep exome sequencing, and high-density single nucleotide polymorphims (SNPs). Using sequence analysis tools, the project discovered more than 88 million variants. The data obtained from the project can be utilized for insights into the genetic basis for disease. 





Timeline

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Further reading

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The 1000 Genomes Project: data management and community access

Laura Clarke et al.





The Subsystems Approach to Genome Annotation and its Use in the Project to Annotate 1000 Genomes

Ross Overbeek et al.





Documentaries, videos and podcasts

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1000 Genomes Project: Defining Genetic Variation in People

November 2, 2012

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References