Over 2,000 missing DNA sequences found

Over 2,000 missing DNA sequences found

Researchers at the University of Washington have found 2,363 new DNA sequences corresponding to 730 regions on the human genome by using new methods.

These sequences represent segments of the genome that were not charted in the reference map of the human genome. “A large portion of those sequences are either missing, fragmented or misaligned when compared to results from next-generation sequencing genome assemblies on the same samples,” said senior author Dr Evan Eichler.

“These findings suggest that new genome assemblies based solely on next-generation sequencing might miss many of these sites,” Eichler said. In the study, published in the journal ‘Nature Methods’, the researchers used information from nine individuals, representing various world populations, to search for and fill in some of the missing pieces.
The researchers also developed a method to accurately genotype many of the newly found DNA sequences and created a way to look at variations in the number of copies of these sequences, opening up regions of the human genome previously inaccessible to such studies.

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