An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY ChallengeCatherine A. Brownstein, Claudia Gugenmus, Alan H. Beggs et al.|Genome biology|2014Cited by 432
A public resource facilitating clinical use of genomesMad Price Ball, George M. Church, Joseph V. Thakuria et al.|Proceedings of the National Academy of Sciences|2012Cited by 246
The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicineJason L. Vassy, Denise Lautenbach, Heather M. McLaughlin et al.|Trials|2014Cited by 135
Inherited <i>CHST11/MIR3922</i> deletion is associated with a novel recessive syndrome presenting with skeletal malformation and malignant lymphoproliferative diseaseSameer S. Chopra, Christopher A. Cassa, Joyce D. Fingeroth et al.|Molecular Genetics & Genomic Medicine|2015Cited by 13