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Genetic Diagnosis through Whole-Exome Sequencing
New England Journal of Medicine, 2014To 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. +2 more
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[Neoantigens and Whole-Exome Sequencing].
Gan to kagaku ryoho. Cancer & chemotherapy, 2016During 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 +2 more
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Whole-exome Sequencing: Opportunities in Pediatric Endocrinology
Personalized Medicine, 2014Pediatric 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 +4 more
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[Whole exome sequencing in oncology].
Voprosy onkologii, 2019Whole 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 +2 more
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Bioinformatics Analysis of Whole Exome Sequencing Data
2018This 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 +2 more
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New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing
International Journal of Molecular Sciences, 2021Maria Antonietta Mencarelli +2 more
exaly
Prospective Evaluation of the Utility of Whole Exome Sequencing in Dilated Cardiomyopathy
Journal of the American Heart Association, 2020Melissa Martyn +2 more
exaly