Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.

doi:10.1016/j.mayocp.2015.12.018

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Article

Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.

Mayo Clinic proceedings - 1 Mar 2016

Lazaridis Konstantinos N, Schahl Kimberly A, Cousin Margot A, Babovic-Vuksanovic Dusica, Riegert-Johnson Douglas L, Gavrilova Ralitza H, McAllister Tammy M, Lindor Noralane M, Abraham Roshini S, Ackerman Michael J, Pichurin Pavel N, Deyle David R, Gavrilov Dimitar K, Hand Jennifer L, Klee Eric W, Stephens Michael C, Wick Myra J, Atkinson Elizabeth J, Linden David R, Ferber Matthew J, Wieben Eric D, Farrugia Gianrico

Abstract excerpt

OBJECTIVE: To describe the experience and outcome of performing whole-exome sequencing (WES) for resolution of patients on a diagnostic odyssey in the first 18 months of an individualized medicine clinic (IMC). PATIENTS AND METHODS: The IMC offered WES to physicians of Mayo Clinic practice for patients with suspected genetic disease. DNA specimens of the proband and relatives were submitted to WES laboratories....

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PMID: 26944241
DOI: 10.1016/j.mayocp.2015.12.018

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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