Results 221 to 230 of about 122,559 (261)

Whole Exome Sequencing

Dermatitis®, 2013
Our goal is to highlight annually a methodology of significance to the journal’s domains, either because it has been used clinically or researchwise for our fields of interest or because it holds promise as a tool in diagnosing, treating, or investigating corresponding diseases.
Donald A, Glass, And Anthony A, Nuara
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Exome sequencing: how to understand it

Practical Neurology, 2013
### Glossary of terms Calling . The process of determining the DNA bases or regions in sequenced subjects that differ from the reference exome or genome. Coverage . The number of times a single nucleotide in a sequence has been sequenced or read. Exons. The protein coding regions. Exome .
M J, Keogh, D, Daud, P F, Chinnery
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Exome Sequencing by Targeted Enrichment

Current Protocols in Molecular Biology, 2013
AbstractThis unit describes methods for targeted enrichment of the exon‐coding portions of the genome using Agilent SureSelect Human All Exon 50 Mb and Roche Nimblegen SeqCap EZ Exome platforms. Each platform targets and enriches a large overlapping portion of the greater human exome.
Michael James, Clark, Rui, Chen, Michael, Snyder   +2 more
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Fetal Exome Sequencing on the Horizon

Journal of Obstetrics and Gynaecology Canada, 2019
Prenatal whole exome sequencing has recently been introduced. It is evolving and although not currently ready for everyday clinical practice, it will likely become part of the diagnostic arsenal available to clinicians caring for couples carrying a pregnancy for which fetal anomalies have been identified.
Karen Wou, Isabelle DeBie, June Carroll, Jo-Ann Brock, R. Douglas Wilson   +4 more
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Exome Sequencing Data Analysis

2019
Whole exome sequencing, owing to its low cost and computational burden, has become the standard for causal gene detection in disease and treatment management. This article provides a brief overview of exome data generation and discusses the computational pipeline involved in utilizing exome sequencing data to identify specific variants, as well as its ...
Sathyanarayanan, Anita, Manda, Srikanth, Poojary, Mukta, Nagaraj, Shivashankar H.   +3 more
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Exome sequencing and the genetics of intellectual disability [PDF]

Clinical Genetics, 2011
Topper S, Ober C, Das S. Exome sequencing and the genetics of intellectual disability.Exome sequencing has greatly impacted the speed at which new disease genes are identified. In the last year alone, six studies have used exome sequencing to identify new genes involved in intellectual disability, a genetically heterogeneous condition affecting 1–3% of
Carole Ober
exaly   +3 more sources

“Hole” Exome Sequences: The Importance of Phenotyping to Fill the Gaps in Whole Exome Sequencing

Pediatric Neurology
Whole 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, Sidney, Zven, David E, Horvat, Juvianee Estrada, Veras, John Paul, Schacht   +4 more
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Whole-exome sequencing

2022
We identified a novel de novo heterozygous nonsense variation of KDM5C (c.3533C>A, p.S1178X) in a sporadic 4-year-old Chinese ...
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The social utility of clinical exome sequencing

Patient Education and Counseling, 2018
Examine 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
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Diagnostic Clinical Genome and Exome Sequencing

New England Journal of Medicine, 2014
n 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, Frank L J, Visseren, Wilko, Spiering   +2 more
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