Article
Genomically Aided Diagnosis of Severe Developmental Disorders.
Annual review of genomics and human genetics - 31 Aug 2020
FitzPatrick David R, Firth Helen V
Abstract excerpt
Our ability to make accurate and specific genetic diagnoses in individuals with severe developmental disorders has been transformed by data derived from genomic sequencing technologies. These data reveal both the patterns and rates of different mutational mechanisms and identify regions of the human genome with fewer mutations than would be expected. In outbred populations, the most common identifiable cause of...
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