Researchers Discover Missing Human Genome Sequences

The authors of a new study in Nature Methods say they have discovered 2,363 new DNA sequences corresponding to 730 regions on the human genome 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 Dr. Evan Eichler, senior author of the study. "These findings suggest that new genome assemblies based solely on next-generation sequencing might miss many of these sites." read more

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