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Genome sequencing may offer diagnostic utility beyond exome sequencing at acceptable cost

1. In this cohort study of families with suspected Mendelian disorders for whom preliminary genetic testing had not revealed a diagnosis, nearly one-third of families obtained a plausible molecular diagnosis after genome sequencing. 2. While enhancing prior exome sequencing likely would have revealed the causal variants in most cases, over one-quarter of the new diagnoses ....

Institute Of Human Genetics In Leipzig , Minute Medicine Inc , Abroad Center , Rating Level , Mendelian Genomics , Human Genetics ,