What Are The 1000 Genomes Phases?
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12.6 years ago
Casbon ★ 3.3k

1000 genomes project news refers to 'phases', such as Release of phase 1 exome alignments or New Reference sequence for Phase 2 mapping. However, the about project page talks about pilots 1/2 and 3, but not about phases.

What are the phases of the 1000 genomes project?

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12.6 years ago
Laura ★ 1.8k

The sample data for the project has been collected in rounds so not all the samples were available from the start of the project.

The pilot studies referred to different strategies of sequencing but the full project phases refer to sets of samples. All the samples in all the phases will be sequenced both using whole genome low coverage and full exome high coverage aswell as genotyped on at least one high density genotyping platform.

Phase 1 contains slightly more than 1000 individuals and phase 2 will have nearly 1600 individuals (this does include then 1000 from phase 1).

By demarcating the analysis process this way we are able to apply any lessons we learn in one phase to the next phase hence the change in reference sequence for mapping between phase 1 and phase 2

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Laura, since you talk about "we" it sounds like you answer directly from the project. Thank you! But Casbon does have a point. I also could not find this info on the 1000 genomes website. Could you consider adding it there?

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We will try and ensure this info is reflected in the FAQ

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Laura since you talk about "we" it sounds like you answer directly from the project. Thank you! But Casbon does have a point I also could not find this info on the 1000 genomes website. Could you consider adding it there?

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