Article
Natural genetic variation caused by small insertions and deletions in the human genome.
Genome research - 1 Jun 2011
Mills Ryan E, Pittard W Stephen, Mullaney Julienne M, Farooq Umar, Creasy Todd H, Mahurkar Anup A, Kemeza David M, Strassler Daniel S, Ponting Chris P, Webber Caleb, Devine Scott E
Abstract excerpt
Human genetic variation is expected to play a central role in personalized medicine. Yet only a fraction of the natural genetic variation that is harbored by humans has been discovered to date. Here we report almost 2 million small insertions and deletions (INDELs) that range from 1 bp to 10,000 bp in length in the genomes of 79 diverse humans. These variants include 819,363 small INDELs that map to human genes....
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