The expanding diagnostic toolbox for rare genetic diseases
Kristin D. Kernohan, Kym M. Boycott
Topics & Concepts
Computational biologyIdentification (biology)BiologyExome sequencingEpigenomeGenomicsExomePrecision medicinePersonalized medicineGenomeDiseaseData scienceBioinformaticsGeneticsComputer scienceMedicinePhenotypeGeneDNA methylationGene expressionBotanyPathologyGenomics and Rare DiseasesCancer Genomics and DiagnosticsGenomic variations and chromosomal abnormalities