CLINICAL EXOME SEQUENCING TO DETECT GENETICALLY DETERMINED DISEASES OF THE SKELETON

Exome Sequencing Deciphers Rare Diseases

Two years ago, NIH's Undiagnosed Diseases Program began delivering genomics to the clinic on an unprecedented scale. Now, with 128 exomes sequenced and 39 rare diseases diagnosed, the program's success is paving the way for widespread personal genomics while pioneering new techniques for reigning in the "tsunami" of genomics data.

Uniparental disomy determined by whole‐exome sequencing in a spectrum of rare motoneuron diseases and ataxias

BACKGROUND The genetic causes of many rare inherited motoneuron diseases and ataxias (MND and ATX) remain largely unresolved, especially for sporadic patients, despite tremendous advances in gene discovery. Whole exome data is often available for patients, but it is rarely evaluated for unusual inheritance patterns, such as uniparental disomy (UPD). UPD is the inheritance of two copies of a chr...

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...