Results 271 to 280 of about 215,860 (303)
Some of the next articles are maybe not open access.
“Hole” Exome Sequences: The Importance of Phenotyping to Fill the Gaps in Whole Exome Sequencing
Pediatric NeurologyWhole exome sequencing (WES) is commonly used for patients with nonspecific clinical features and conditions with genetic heterogeneity. However, a nondiagnostic exome does not exclude a genetic diagnosis, so history and physical examination is crucial to selecting appropriate genetic testing.We report three patients with three recognizable phenotypes:
R Colin, McNamara +4 more
openaire +2 more sources
Diagnostic Clinical Genome and Exome Sequencing
New England Journal of Medicine, 2014n engl j med 371;12 nejm.org september 18, 2014 1169 not. This suggests that differences with previous studies may be explained by residual confounding in those studies. Our study addresses only one piece of the complex risk–benefit equation of antidepressant use in pregnancy, during which other risks associated with antidepressant use have been well ...
Jan, Westerink +2 more
openaire +5 more sources
The social utility of clinical exome sequencing
Patient Education and Counseling, 2018Examine the presentation of clinical and social implications of exome sequencing findings during patient-geneticist interactions.Video-recordings of 34 returns of exome sequencing results with findings in an academic genetics clinic were examined using an inductive thematic analysis to distinguish categories of consequences.
Stefan, Timmermans, Tanya, Stivers
openaire +2 more sources
Exome Sequencing and Advances in Crop Improvement
2012Next-generation sequencing strategies have opened new vistas for molecular plant breeding. The sequence information obtained by the advent of next-generation sequencing provides a valuable tool not only for improving domesticated crops but also for investigating the natural evolution of crops.
Devi, Singh +4 more
openaire +2 more sources
Diagnostic Exome Sequencing — Are We There Yet?
New England Journal of Medicine, 2012Advances in technology are rapidly changing the field of medical genetics in both the research laboratory and the clinic. With the use of next-generation, or massively parallel, DNA sequencing, it is possible to determine the sequence of essentially all genes in an individual's genome — referred to as the exome — within a matter of days.
openaire +2 more sources
Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions
Genetics in Medicine, 2022Tara A Lavelle +2 more
exaly