[HTML][HTML] A retrospective review of multiple findings in diagnostic exome sequencing: HalF. A. re distinct and halF. A. re overlapping diagnoses
ED Smith, K Blanco, SA Sajan, JM Hunter… - Genetics in …, 2019 - Elsevier
Purpose We evaluated clinical and genetic features enriched in patients with multiple
Mendelian conditions to determine which patients are more likely to have multiple potentially
relevant genetic findings (MPRF). Methods Results of the first 7698 patients who underwent
exome sequencing at Ambry Genetics were reviewed. Clinical and genetic features were
examined and degree of phenotypic overlap between the genetic diagnoses was evaluated.
Results Among patients referred for exome sequencing, 2% had MPRF. MPRF were more …
Mendelian conditions to determine which patients are more likely to have multiple potentially
relevant genetic findings (MPRF). Methods Results of the first 7698 patients who underwent
exome sequencing at Ambry Genetics were reviewed. Clinical and genetic features were
examined and degree of phenotypic overlap between the genetic diagnoses was evaluated.
Results Among patients referred for exome sequencing, 2% had MPRF. MPRF were more …
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