Results 231 to 240 of about 102,585 (258)

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   +2 more sources

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
openaire   +6 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 ...
Mark E, Samuels, Caroline, Hasselmann, Cheri L, Deal, Johnny, Deladoey, Guy Van, Vliet   +4 more
openaire   +2 more sources

[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
openaire   +1 more source

[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
openaire   +1 more source

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
openaire   +2 more sources

Application of whole exome sequencing in fetal cases with skeletal abnormalities

Heliyon, 2022
Juan Cao
exaly  

Exome and Whole Genome Sequencing in the Neonatal Intensive Care Unit

Clinics in Perinatology, 2022
Michael Muriello
exaly  

Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy

Journal of the American Heart Association, 2020
Mathew Wallis, Ivan Macciocca, Melissa Martyn   +2 more
exaly  

The potential diagnostic yield of whole exome sequencing in pregnancies complicated by fetal ultrasound anomalies

Acta Obstetricia Et Gynecologica Scandinavica, 2021
Marieke Joosten, Lutgarde C P Govaerts, Marike Polak   +2 more
exaly