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Whole-Exome Sequencing: Discovering Genetic Causes of Orthopaedic Disorders
Nandina Paria, PhD1; Lawson A. Copley, MD1; John A. Herring, MD1; Harry K.W. Kim, MD1; Benjamin S. Richards, MD1; Daniel J. Sucato, MD1; Carol A. Wise, PhD1; Jonathan J. Rios, PhD1
1 Sarah M. and Charles E. Seay Center for Musculoskeletal Research (N.P., H.K.W.K., C.A.W., and J.J.R.), Department of Orthopaedics (L.A.C., J.A.H, B.S.R., and D.J.S.), Texas Scottish Rite Hospital for Children, 2222 Welborn Street, Dallas, TX 75219. E-mail address for J.J. Rios: Jonathan.Rios@tsrh.org
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Disclosure: None of the authors received payments or services, either directly or indirectly (i.e., via his or her institution), from a third party in support of any aspect of this work. One or more of the authors, or his or her institution, has had a financial relationship, in the thirty-six months prior to submission of this work, with an entity in the biomedical arena that could be perceived to influence or have the potential to influence what is written in this work. No author has had any other relationships, or has engaged in any other activities, that could be perceived to influence or have the potential to influence what is written in this work. The complete Disclosures of Potential Conflicts of Interest submitted by the authors of this work are available with the online version of this article at jbjs.org.

Copyright © 2013 by The Journal of Bone and Joint Surgery, Inc.
J Bone Joint Surg Am, 2013 Dec 04;95(23):e185 1-8. doi: 10.2106/JBJS.L.01620
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Sequencing technologies promising the “$1000 genome” have developed at a staggering pace, driven in part by the HapMap Project1 (which set out to catalog common variations throughout the genome in multiple ethnic populations) and the 1000 Genomes Project2 (a consortium to catalog rare variations from different ethnic populations worldwide). Commercial whole-genome sequencing platforms have yet to break the $1000 mark. However, sequencing throughput and accuracy are no longer limiting factors. Despite recent successes in patient-oriented whole-genome sequencing3-6, analyzing and interpreting these data sets represent a major challenge, particularly for the ∼98% of the genome that does not encode proteins.
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    genetics ; exome

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