Review paper

A retrospective review of multiple findings in diagnostic exome sequencing: halF.A.re distinct and halF.A.re overlapping diagnoses

Volume: 21, Issue: 10, Pages: 2199 - 2207
Published: Oct 1, 2019
Abstract
PurposeWe 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).MethodsResults 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...
Paper Details
Title
A retrospective review of multiple findings in diagnostic exome sequencing: halF.A.re distinct and halF.A.re overlapping diagnoses
Published Date
Oct 1, 2019
Volume
21
Issue
10
Pages
2199 - 2207
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