Results 311 to 320 of about 178,713 (349)

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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Genetic Diagnosis through Whole-Exome Sequencing

New England Journal of Medicine, 2014
To 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., Jongbloed, Jan D. H., van Tintelen, J. Peter   +2 more
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Rare genetic disorders: Beyond whole‐exome sequencing

The Journal of Gene Medicine, 2023
Whole 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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Whole exome sequencing of sinonasal cancers.

Journal of Clinical Oncology, 2023
e18046 Background: Sinonasal cancers are a rare group of heterogenous cancers arising in the nasal cavity and sinuses. Understanding the genomics alterations of these tumors can help identify subgroups with additional targets. Methods: Oncology Research Information Exchange Network (ORIEN) is an alliance of cancer centers, powered by M2GEN.
Priyanka Bhateja, Ayse Selen Yilmaz, Sachin R. Jhawar, Sujith Baliga, Emile Gogineni, Darrion L Mitchell, Riccardo Carrau, Dukagjin Blakaj, Marcelo Raul Bonomi   +8 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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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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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 ...
Mark E, Samuels, Caroline, Hasselmann, Cheri L, Deal, Johnny, Deladoey, Guy Van, Vliet   +4 more
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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.
Peter J, Ulintz, Weisheng, Wu, Chris M, Gates   +2 more
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[Whole exome sequencing in oncology].

Voprosy onkologii, 2019
Whole exome sequencing (WES) has become a leading tool for genetic analysis right after its invention. This approach permits the detection of mutations spread within coding regions of the entire genome. For cancer patients WES is particularly effective for the search of hereditary cancer mutations and identification of somatically mutated druggable ...
E N, Suspitsyn, A P, Sokolenko, E N, Imyanitov   +2 more
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[Neoantigens and Whole-Exome Sequencing].

Gan to kagaku ryoho. Cancer & chemotherapy, 2016
During cancer progression, many somatic mutations accumulate in cancer cells. Antigens derived from tumor-specific mutated genes are primary sources ofneoantigens in cancer immunology. As compared with non-mutated self-antigens, neoantigens are thought to have higher antigenicity, and are expected to be ideal targets for tumor rejection. Recent studies
Takahiro, Karasaki, Jun, Nakajima, Kazuhiro, Kakimi   +2 more
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