A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases
Rajshree Pandey, Noemi Fluetsch Brennan, Kalliopi Trachana, Sarah Katsandres, Olaf A. Bodamer, John W. Belmont, David L. Veenstra, Siyang Peng
Topics & Concepts
Exome sequencingExomeMeta-analysisMedicineGenetic testingComputational biologyGeneticsBioinformaticsBiologyMutationInternal medicineGeneGenomics and Rare DiseasesGenetic factors in colorectal cancerGenomic variations and chromosomal abnormalities