Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis
Joseph T. Alaimo, Kevin E. Glinton, Ning Liu, Jing Xiao, Yaping Yang, V. Reid Sutton, Sarah H. Elsea
Topics & Concepts
Profiling (computer programming)Exome sequencingComputational biologyExomeMetabolomicsMedicineBioinformaticsBiologyGeneticsComputer sciencePhenotypeGeneOperating systemGenomics and Rare DiseasesMetabolomics and Mass Spectrometry StudiesGenetic Associations and Epidemiology