Reanalysis of Clinical Exome Sequencing Data

Diagnostic clinical genome and exome sequencing.

From the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD (L.G.B.); and the Division of Genetics, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, and Partners Healthcare Personalized Medicine — all in Boston (R.C.G.). Address reprint requests to Dr. Biesecker at 49 Convent Dr., Rm. 4A56, Bethesda, MD 20892-4472, or at lesb@ma...

Exome Sequencing – Research and Clinical Applications

Clinical exome sequencing in neurologic disease.

PURPOSE OF REVIEW The landscape of genetic diagnostic testing has changed dramatically with the introduction of next-generation clinical exome sequencing (CES), which provides an unbiased analysis of all protein-coding sequences in the roughly 21,000 genes in the human genome. Use of this testing, however, is currently limited in clinical neurologic practice by the lack of a framework for appro...

Diagnostic Clinical Genome and Exome Sequencing

From the National Human Genome Research Institute, National Institutes of Health, Bethesda, MD (L.G.B.); and the Division of Genetics, Department of Medicine, Brigham and Women’s Hospital and Harvard Medical School, and Partners Healthcare Personalized Medicine — all in Boston (R.C.G.). Address reprint requests to Dr. Biesecker at 49 Convent Dr., Rm. 4A56, Bethesda, MD 20892-4472, or at lesb@ma...

Title : Evaluating the genetic diagnostic power of exome sequencing : Identifying missing data . Running title : Identifying missing data in exome sequencing

Short Report Title: Evaluating the genetic diagnostic power of exome sequencing: Identifying missing data. Running title: Identifying missing data in exome sequencing Authors: Pascual Lorente-Arencibia BEng, Deyán Guacarán BEng, Antonio Tugores PhD Affiliation: Unidad de Investigación, Complejo Hospitalario Universitario Insular Materno Infantil, Las Palmas de Gran Canaria, Spain. Corresponding...