Sarah L. Sawyer

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: It is reported that the H3 lysine 36–to-methionine (H3K36M) mutation impairs the differentiation of mesenchymal progenitor cells and generates undifferentiated sarcoma in vivo.

TL;DR: The presence of biallelic BRCA1 mutations in a woman with multiple congenital anomalies consistent with a Fanconi anemia-like disorder and breast cancer at age 23 is reported, and it is established that bIALlelic bRCA 1 mutations cause a distinct FA-S, which has implications for risk counselling in families where both parents harbor BRCa1 mutations.

TL;DR: The empirical findings supplement the theoretical debate, illustrating the general doubtfulness of previous positive findings and the limited ability of typical association studies based on candidate genes to discern true medium-sized signals from false positives.