High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders
François Lecoquierre, Olivier Quenez, Steeve Fourneaux, Sophie Coutant, Myriam Vézain, Marion Rolain, Nathalie Drouot, Anne Boland, Robert Olaso, Vincent Meyer, Jean‐François Deleuze, Dana Dabbagh, Isabelle Gilles, Claire Gayet, Pascale Saugier-Véber, Alice Goldenberg, Anne‐Marie Guerrot, Gaël Nicolas
Topics & Concepts
BiologyExome sequencingTranscriptomeGeneticsKabuki syndromeExomeGenomeDNA sequencingDeep sequencingComputational biologyDe novo transcriptome assemblySotos syndromeGeneIllumina dye sequencingPhenotypeGene expressionGenomics and Rare DiseasesGenetic Syndromes and ImprintingGenomic variations and chromosomal abnormalities