A systematic approach to the reporting of medically relevant findings from whole genome sequencing

McLaughlin HM, Ceyhan-Birsoy O, Christensen KD, Kohane IS, Krier JK, Lane WJ, Lautenbach D, Lebo MS, Machini K, MacRae C, Metterville D, Murray MF, Seidman CE, Vassy JL, Green RC, Rehm HL.
BMC Medical Genetics December 2014