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The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results [PDF]
Genetics in Medicine, 2017 Evaluation of the clinician's role in the optimal interpretation of clinical exome sequencing (ES) results.Retrospective chart review of the first 155 patients who underwent clinical ES in our Exome Clinic and direct interaction with the ordering geneticist to evaluate the process of interpretation of results.The most common primary indication was ...
Dustin Baldridge +2 more
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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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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
openaire +2 more sources
Cold Spring Harbor Protocols, 2016
This protocol describes the construction of a paired-end library of genomic DNA (gDNA) and subsequent capture of specific regions of a genome using NimbleGen sequence capture probes and Illumina TruSeq oligos. The captured DNA, purified and quantitated, is appropriate for use as template in Illumina sequencing systems.
Elaine, Mardis, W Richard, McCombie
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This protocol describes the construction of a paired-end library of genomic DNA (gDNA) and subsequent capture of specific regions of a genome using NimbleGen sequence capture probes and Illumina TruSeq oligos. The captured DNA, purified and quantitated, is appropriate for use as template in Illumina sequencing systems.
Elaine, Mardis, W Richard, McCombie
openaire +2 more sources
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, 2013AbstractThis 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 +2 more
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Fetal Exome Sequencing on the Horizon
Journal of Obstetrics and Gynaecology Canada, 2019Prenatal 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 +4 more
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Application of targeted exome and whole‐exome sequencing for Chinese families with Stargardt disease
Annals of Human Genetics, 2019AbstractObjectiveThe aim of this study was to investigate pathogenic variants and molecular etiologies of Stargardt disease (STGD) in a cohort of Chinese families.Materials and MethodsA cohort of 12 unrelated STGD families diagnosed on the basis of clinical manifestations underwent analysis by targeted exome or whole‐exome sequencing.
Handong Dan +3 more
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Exome Sequencing Data Analysis
2019Whole 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 +3 more
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“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
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