Results 221 to 230 of about 102,585 (258)

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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Whole-Exome/Genome Sequencing and Genomics

Pediatrics, 2013
As 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, Barry H, Thompson, Louanne, Hudgins   +2 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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Whole exome and whole genome sequencing

Current Opinion in Pediatrics, 2011
The 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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Whole-exome sequencing: A changing landscape of prenatal counseling

2022
In 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., Klapwijk, Jasmijn E., Joosten, Marieke, Brüggenwirth, Hennie T., Srebniak, Malgorzata I.   +4 more
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Sample tracking in whole exome sequencing

Clinica Chimica Acta
Owing to its high efficiency, resolution, and thorough coverage, whole exome sequencing (WES) has become an indispensable tool in the diagnosis and research of rare diseases and tumors and the discovery of novel genes. Nonetheless, various challenges, including those related to sample processing, experimental manipulation, and data management, persist ...
Xunhong, Yang, Zhilong, Li, Benyang, Xiao, Weiyu, Zhai, Yu, Tan, Li, Wang   +5 more
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Whole exome sequencing of placental chorangioma

Placenta
Placental chorangioma is a benign non-trophoblastic vascular proliferation of the placental chorion favored to represent hamartoma-like or hyperplastic capillary lesions. As the exact pathophysiology has not been established, we investigated the molecular characteristics of placental chorangiomas using exploratory whole exome sequencing.Three cases ...
Rachelle P. Mendoza, Kristina Doytcheva, Minhaz Ud Dean, Kyla M. Jorgenson, Donghyuk Choi, Jeremy Segal, Peng Wang, Ricardo R. Lastra   +7 more
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Regulating whole exome sequencing as a diagnostic test

Human Genetics, 2016
In the last decade, there has been a flood of new technology in the sequencing arena. The onset of next-generation sequencing (NGS) technology has resulted in the vast increase in genetic diagnostic testing available to the ordering physician. Whole exome sequencing (WES) has become available as a diagnostic test performed in certified clinical ...
Valentina, Lapin, Lindsey C, Mighion, Cristina P, da Silva, Ymkje, Cuperus, Lora J H, Bean, Madhuri R, Hegde   +5 more
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Whole‐exome sequencing for diagnosis of hereditary ichthyosis

Journal of the European Academy of Dermatology and Venereology, 2018
AbstractBackgroundHereditary ichthyosis constitutes a diverse group of cornification disorders. Identification of the molecular cause facilitates optimal patient care.ObjectiveWe wanted to estimate the diagnostic yield of applying whole‐exome sequencing (WES) in the routine genetic workup of inherited ichthyosis.MethodsDuring a 3‐year‐period, all ...
J C, Sitek, M A, Kulseth, K B, Rypdal, T, Skodje, Y, Sheng, L, Retterstøl   +5 more
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Prenatal whole‐exome sequencing: parental attitudes

Prenatal Diagnosis, 2015
AbstractObjectiveThe 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, Andrew, Althouse, Lisa S, Parker, Devereux N, Saller, Aleksandar, Rajkovic   +4 more
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