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2 results on '"Yuval Itan"'

1. Whole-exome sequencing for detecting inborn errors of immunity: overview and perspectives [version 1; referees: 2 approved]

Author

Barbara Bosch, Yuval Itan, and Isabelle Meyts

Subjects
Genetics of the Immune System, Medicine, Science
Abstract

The study of inborn errors of immunity is based on a comprehensive clinical description of the patient’s phenotype and the elucidation of the underlying molecular mechanisms and their genetic etiology. Deciphering the pathogenesis is key to genetic counseling and the development of targeted therapy. This review shows the power of whole-exome sequencing in detecting inborn errors of immunity along five central steps taken in whole-exome sequencing analysis. In parallel, we highlight the challenges for the clinical and scientific use of the method and how these hurdles are currently being addressed. We end by ruminating on major areas in the field open to future research.

Published
2017
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2. Whole-exome sequencing for detecting inborn errors of immunity: overview and perspectives

Author

Yuval Itan, Barbara Bosch, and Isabelle Meyts

Subjects
0301 basic medicine, Open science, inborn errors of immunity, medicine.medical_treatment, Genetic counseling, Review, Bioinformatics, General Biochemistry, Genetics and Molecular Biology, Targeted therapy, 03 medical and health sciences, Immunity, Genetic etiology, Genetics of the Immune System, Medicine, whole-exome sequencing, General Pharmacology, Toxicology and Pharmaceutics, Exome sequencing, General Immunology and Microbiology, business.industry, Articles, General Medicine, 3. Good health, Open data, 030104 developmental biology, primary immune deficiencies, business
Abstract

The study of inborn errors of immunity is based on a comprehensive clinical description of the patient's phenotype and the elucidation of the underlying molecular mechanisms and their genetic etiology. Deciphering the pathogenesis is key to genetic counseling and the development of targeted therapy. This review shows the power of whole-exome sequencing in detecting inborn errors of immunity along five central steps taken in whole-exome sequencing analysis. In parallel, we highlight the challenges for the clinical and scientific use of the method and how these hurdles are currently being addressed. We end by ruminating on major areas in the field open to future research. ispartof: F1000Research vol:6 pages:2056- ispartof: location:England status: published

Published
2017
Full Text
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