… The study involved pre- and posttest genetic counseling and completion of 4 surveys related
to the experience and outcomes. Whole-exome sequencing was conducted on DNA from …

… with suspected genetic … of sequencing technologies, clinical exome sequencing (CES) is
quickly becoming a leading modality in pediatric patients referred for clinical genetics evaluation…

… Reports of the use of whole-exome sequencing in clinical practice are limited. We report our
experience with whole-exome sequencing in 115 patients in a single center and evaluate its …

… Exome sequencing has provided insights into the genetic and phenotypic heterogeneity (eg, …
We evaluate the role of the medical geneticist in the interpretation of results, auxiliary …

… in medical genetics, accelerating … -exome sequencing (WES) is application of the next-generation
technology to determine the variations of all coding regions, or exons, of known genes. …

… essential input in economic evaluations to determine the value of the test. While numerous
methodological challenges exist for economic evaluations of genomic sequencing tests, 12 …

… integrating exome sequencing, chromosomal microarray, phenotyping, results return with
genetic … Standardizing the baseline genetic evaluation across this rich cohort is a goal of our …

… paradigm by evaluating novel bioinformatics approaches to aid identification of new gene–…
P = 0.0027), 35 we asked the Exome Sequencing Project directly about this EVS homozygous …

… sets for population genetic analysis. Additionally, we demonstrate that exome sequencing
provides a better alternative to the array-based methods for population genetic analysis. In this …

… findings consistent with a known genetic diagnosis) have evaluated the feasibility and value
… Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by …