Results 261 to 270 of about 215,860 (303)

Improving Exome Sequencing for Neurodevelopmental Disorders

JAMA Network Open
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Clinical exome sequencing—Mistakes and caveats [PDF]

Human Mutation, 2022
Massive parallel sequencing technology has become the predominant technique for genetic diagnostics and research. Many genetic laboratories have wrestled with the challenges of setting up genetic testing workflows based on a completely new technology.
Jordi Corominas, Sanne P Smeekens, Marcel R Nelen   +2 more
exaly   +3 more sources

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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
openaire   +3 more sources

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

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 ...
openaire   +1 more source