Catherine A. Brownstein

TL;DR: It is established that members of the PatientsLikeMe community reported a range of benefits, and that these may be related to the extent of site use, and third party validation and longitudinal evaluation is an important next step in continuing to evaluate the potential of online data-sharing platforms.

TL;DR: The CLARITY Challenge provides a comprehensive assessment of current practices for using genome sequencing to diagnose and report genetic diseases and reveals a general convergence of practices on most elements of the analysis and interpretation process.

TL;DR: The Matchmaker Exchange (MME) was launched to provide a robust and systematic approach to rare disease gene discovery through the creation of a federated network connecting databases of genotypes and rare phenotypes using a common application programming interface (API).

TL;DR: The CLARITY Challenge as mentioned in this paper was designed to spur convergence in methods for diagnosing genetic disease starting from clinical case history and genome sequencing data, with the goal of identifying disease-causing variants and reporting the findings in a clinically useful format.

TL;DR: It is suggested that the elevated α-Klotho level mimics aspects of the normal response to hyperphosphatemia and implicate α-Lotho in the selective regulation of phosphate levels and in the regulation of parathyroid mass and function; they have implications for the pathogenesis and treatment of renal osteodystrophy in patients with kidney failure.