Results 261 to 270 of about 187,376 (271)

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 ...
K.B. Rypdal, L. Retterstøl, Ying Sheng, M.A. Kulseth, J.C. Sitek, T. Skodje   +5 more
openaire   +3 more sources

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
openaire   +2 more sources

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
openaire   +3 more sources

Whole-exome Sequencing: Opportunities in Pediatric Endocrinology

Personalized Medicine, 2014
Pediatric endocrinology services see a wide variety of patients with diverse clinical symptoms, including disorders of growth, metabolism, bone and sexual development. Molecular diagnosis plays an important role in this branch of medicine. Traditional PCR-based Sanger sequencing is a mainstay format for molecular testing in pediatric cases despite its ...
Caroline Hasselmann, Guy Van Vliet, Johnny Deladoëy, Mark E. Samuels, Cheri Deal   +4 more
openaire   +3 more sources

Bioinformatics Analysis of Whole Exome Sequencing Data

2018
This chapter contains a step-by-step protocol for identifying somatic SNPs and small Indels from next-generation sequencing data of tumor samples and matching normal samples. The workflow presented here is largely based on the Broad Institute's "Best Practices" guidelines and makes use of their Genome Analysis Toolkit (GATK) platform.
Weisheng Wu, Chris Gates, Peter J. Ulintz   +2 more
openaire   +3 more sources

Whole exome sequencing of esophageal cancer

2013
Whole exome sequencing of esophageal ...
openaire   +1 more source

Changing the game with whole exome sequencing

Clinical Genetics, 2011
openaire   +3 more sources

Applications of next-generation whole exome sequencing

Journal of Neurology, 2014
Neil Robertson, Katharine Harding
openaire   +3 more sources

Dysmorphology in the era of whole exome sequencing

Current Opinion in Pediatrics, 2011
openaire   +3 more sources

Whole Exome Sequencing, homozygosity, autozygosity

Journal of Biotechnology, 2014
openaire   +2 more sources