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New methods identify thousands of new DNA sequences missing from the human genome reference map
Date:4/20/2010

genotype many of the newly found DNA sequences and created a way to look at variations in the number of copies of these sequences, thereby opening up regions of the human genome previously inaccessible to such studies.

"Scientists can now begin trying to understand the functional importance of these sequences and their variations," Kidd said.

The 1,000 Genomes Project (an international effort to fully sequence the genomes of a thousand anonymous individuals) and other genome studies are amassing massive amounts of data on DNA sequences that are then mapped to the reference genome, he added. Any study, he continued, that improves the completeness and quality of the reference genome assembly will thereby benefit these projects and lead to a fuller picture of the extent of human genomic variation.

The findings are published as "Characterization of missing human genome sequences and copy-number polymorphic insertions," in Nature Methods.


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Contact: Leila Gray
leilag@u.washington.edu
206-685-0381
University of Washington
Source:Eurekalert

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