David P. Bick

TL;DR: Because of the increased complexity of analysis and interpretation of clinical genetic testing described in this report, the ACMG strongly recommends thatclinical molecular genetic testing should be performed in a Clinical Laboratory Improvement Amendments–approved laboratory, with results interpreted by a board-certified clinical molecular geneticist or molecular genetic pathologist or the equivalent.

TL;DR: In this article, exome sequencing of DNA from biopsy samples obtained from patients with the Proteus syndrome and compared the resultant DNA sequences with those of unaffected tissues obtained from the same patients were performed.

TL;DR: The power of exome sequencing to render a molecular diagnosis in an individual patient in the setting of a novel disease, after all standard diagnoses were exhausted, is demonstrated and illustrates how this technology can be used in a clinical setting.

TL;DR: The National Human Genome Research Institute brought together a number of institutions to describe their ongoing projects and challenges, identify common infrastructure and research needs, and outline an implementation framework for investigating and introducing similar programs elsewhere.

TL;DR: This research highlights the need to understand more fully the role of Epstein-Barr virus in infectious disease and its role in Hunter-LaSalle syndrome.