Results 221 to 230 of about 103,351 (258)

Whole-genome and whole-exome sequencing in neurological diseases

Nature Reviews Neurology, 2012
Genetic risk factors that underlie many rare and common neurological disorders remain poorly understood because of the multifactorial and heterogeneous nature of these complex traits. With the decreasing cost of massively parallel sequencing technologies, whole-genome and whole-exome sequencing will soon allow the characterization of the full spectrum ...
Jia-Nee, Foo, Jian-Jun, Liu, Eng-King, Tan   +2 more
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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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Exome and Whole Genome Sequencing in Aging and Longevity

2015
Calendar age is the major risk factor for common disease. It is therefore expected that understanding the aging process will eventually lead to promotion of better health conditions in elderly populations. Such insight may be obtained by identifying the genetic determinants of familial and exceptional longevity and age-related disease.
van den Akker, E., Deelen, J., Slagboom, P., Beekman, M.   +3 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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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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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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Clinical whole exome sequencing in severe hypertriglyceridemia

Clinica Chimica Acta, 2019
Little data exist regarding the clinical application of whole exome sequencing (WES) for the molecular diagnosis of severe hypertriglyceridemia (HTG).WES was performed for 28 probands exhibiting severe HTG (≥1000 mg/dl) without any transient causes. We evaluated recessive and dominant inheritance models in known monogenic HTG genes, followed by disease-
Hayato Tada, Akihiro Nomura, Hirofumi Okada, Takuya Nakahashi, Tsuyoshi Nozue, Kenshi Hayashi, Atsushi Nohara, Kunimasa Yagi, Akihiro Inazu, Ichiro Michishita, Hiroshi Mabuchi, Masakazu Yamagishi, Masa-aki Kawashiri   +12 more
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“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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