Whole-Genome Sequencing for Optimized Patient Management

Author:

Bainbridge Matthew N.12,Wiszniewski Wojciech3,Murdock David R.1,Friedman Jennifer45,Gonzaga-Jauregui Claudia3,Newsham Irene1,Reid Jeffrey G.1,Fink John K.67,Morgan Margaret B.1,Gingras Marie-Claude1,Muzny Donna M.1,Hoang Linh D.8,Yousaf Shahed8,Lupski James R.13910,Gibbs Richard A.13

Affiliation:

1. Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA.

2. Department of Structural and Computational Biology and Molecular Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.

3. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

4. Departments of Neurosciences and Pediatrics, University of California, San Diego, CA 92093, USA.

5. Rady Children’s Hospital, San Diego, CA 92123, USA.

6. Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA.

7. Geriatric Research Education and Clinical Center, Ann Arbor Veterans Affairs Medical Center, Ann Arbor, MI 48105, USA.

8. Life Technologies, Carlsbad, CA 92008, USA.

9. Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA.

10. Texas Children’s Hospital, Houston, TX 77030, USA.

Abstract

A disease mutation identified by whole-genome sequencing of twins with dystonia allowed optimization of treatment, resulting in clinical improvements.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

General Medicine

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