Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine - Stavropoulos, Dimitri J; Merico, Daniele; Jobling, Rebekah; Bowdin, Sarah; Monfared, Nasim; Thiruvahindrapuram, Bhooma; Nalpathamkalam, Thomas; Pellecchia, Giovanna; Yuen, Ryan K C; Szego, Michael J; Hayeems, Robin Z; Shaul, Randi Zlotnik; et al. (Npj genomic medicine, 2016)
Keywords: 631/1647/2217; 631/208/212; 692/308/2056; 692/308/575; Bioinformatics; Biomedical and Life Sciences; Biomedicine; Gene Function; Gene Therapy; Human Genetics; Internal Medicine; Diagnostic Yield; Chromosomal Microarray Analysis; Whole Genome Sequencing