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Natural genetic variation caused by small insertions and deletions in the human genome

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...

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Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Cold Spring Harbor Laboratory Press 2011
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3106316/
https://ncbi.nlm.nih.gov/pubmed/21460062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/gr.115907.110
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