To identify missing sequence and genetic variation, the scientists sequence and analyse a haploid human genome (CHM1) using single-molecule, real-time DNA sequencing. Their results suggest a greater complexity of the human genome in the form of variation of longer and more complex repetitive DNA that can now be largely resolved with the application of this longer-read sequencing technology.
Missing a gene may be less problematic than you'd think. This is one of the conclusions that emerge from the most extensive catalog of changes in large sections of a person's DNA sequence to date. This reference catalog of structural variations across the globe will help guide future studies of genetics, evolution and disease.
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The goal ? Commit France to the revolution in personalized medicine.