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 | PMID: 25714468 December 2014