Results 161 to 170 of about 174,703 (205)
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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.We hope another strength of this new section is simplicity of language that
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.We hope another strength of this new section is simplicity of language that
Donald A, Glass, And Anthony A, Nuara
openaire +4 more sources
Prenatal whole‐exome sequencing: parental attitudes
Prenatal Diagnosis, 2015AbstractObjectiveThe aim of this study was to survey the opinions of expectant parents regarding prenatal whole‐exome sequencing.MethodsThe study used a questionnaire that focused on acceptability of prenatal whole‐exome sequencing to individuals who pursued first‐trimester prenatal screening in a tertiary academic medical center.
Eve J, Kalynchuk +4 more
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Whole-Exome/Genome Sequencing and Genomics
Pediatrics, 2013As medical genetics has progressed from a descriptive entity to one focused on the functional relationship between genes and clinical disorders, emphasis has been placed on genomics. Genomics, a subelement of genetics, is the study of the genome, the sum total of all the genes of an organism.
Wayne W, Grody +2 more
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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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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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Whole-exome sequencing: A changing landscape of prenatal counseling
2022In this chapter, we describe how the field of prenatal counseling is changing under the influence of whole exome sequencing (WES). WES broadens the scope of prenatal diagnoses, entailing a shift from phenotype first to genotype first. For both HCP’s and parents, this implies a change in counseling, other demands for informed decision making and a ...
Diderich, Karin E. M. +4 more
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Whole exome and whole genome sequencing
Current Opinion in Pediatrics, 2011The purpose of this review is to describe the new DNA sequencing technologies referred to as next-generation sequencing (NGS). These new methods are becoming central to research in human disease and are starting to be used in routine clinical care.Advances in instrumentation have dramatically reduced the cost of DNA sequencing.
David, Bick, David, Dimmock
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Genetic Diagnosis through Whole-Exome Sequencing
New England Journal of Medicine, 2014To the Editor: Yang et al. (Oct. 17 issue)(1) report the application of whole-exome sequencing in 250 patients with a potentially genetic disease, which resulted in a molecular diagnosis in 25% of them. A total of 30 patients had medically actionable incidental findings in a total of 16 genes; 18 of these patients had genotypes that the American ...
van der Zwaag, Paul A. +2 more
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Rare genetic disorders: Beyond whole‐exome sequencing
The Journal of Gene Medicine, 2023Whole exome sequencing is commonly used as clinical exome in almost every hospital to diagnose rare and complex genetic disorders. Still, there are a lot of undiagnosed patients that require correct molecular diagnosis for treatment strategies. Different techniques such as structural variants, STRs, long read sequencing, pan genomics, proteomics ...
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