A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative - Schoch, Kelly; Spillmann, Rebecca; Tan, Queenie K.-G.; McConkie-Rosell, Allyn; Jiang, Yong-Hui; Goldstein, David B.; Adams, David R.; Allard, Patrick; Ashley, Euan A.; Bacino, Carlos A.; Beggs, Alan H.; Birch, Camille L.; et al. (Genetics in medicine, 2019)
Keywords: Bioinformatics; Biomedicine; Child; Developmental Disabilities - diagnosis; Developmental Disabilities - epidemiology; Developmental Disabilities - genetics; Exome - genetics; Exome sequencing; Exome Sequencing - methods; Female; Genetic Predisposition to Disease; Genome sequencing; Genomics; Human Genetics; Humans; Laboratory Medicine; Male; Phenotype; Phenotyping; Rare diseases; Sequence Analysis, DNA; Undiagnosed diseases; Whole Genome Sequencing; Rare diseases; Genome sequencing; Undiagnosed diseases; Exome sequencing; Phenotyping