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exome

[ek-sohm]

noun

  1. Genetics.,  the portions of a gene or genome that code information for protein synthesis; the exons in the human genome.



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Mayo Clinic's Center for Individualized Medicine has achieved a significant milestone with its Tapestry study, generating the clinic's largest-ever collection of exome data, which include genes that code for proteins -- key to understanding health and disease.

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Participants' saliva samples from all three of Mayo Clinic's campuses -- in Minnesota, Arizona and Florida -- were used to extract DNA for exome sequencing.

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Exome sequencing analyzes nearly 20,000 genes that provide instructions for making proteins, which play many critical roles in the body.

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This extensive database has become a valuable resource for Mayo's scientific community, with 118 research requests submitted, that have resulted in the distribution of over 1.1 million exome datasets to interested investigators.

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Researchers provide AIM with patients' exome sequence data and symptoms, and AIM provides a ranking of the most likely gene candidates causing the rare disease.

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