Genotype to phenotype-discovery and characterization of novel genomic disorders in a "genotype-first" era.

Abstract excerpt

Recent advances in technology for detecting copy number changes have enabled genome-wide detection of submicroscopic deletions and duplications. As these technologies are applied to large cohorts of patients with diverse phenotypes, novel genomic disorders are defined by a common genotype (deletion or duplication) rather than a common phenotype. The discovery of new genomic disorders using this "genotype-first"...

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