Αρχειοθήκη ιστολογίου

Αλέξανδρος Γ. Σφακιανάκης
ΩτοΡινοΛαρυγγολόγος
Αναπαύσεως 5
Άγιος Νικόλαος Κρήτη 72100
2841026182
6032607174

Σάββατο 23 Σεπτεμβρίου 2017

Whole exome sequencing in inborn errors of immunity: use the power but mind the limits.

Purpose of review: Next-generation sequencing, especially whole exome sequencing (WES), has revolutionized the molecular diagnosis of inborn errors of immunity. This review summarizes the generation and analysis of next-generation sequencing data. Recent findings: The focus is on prioritizing strategies for unveiling the potential disease-causing variant. We also highlighted oversights and imperfections of WES and targeted panel sequencing, as well as the need for functional validation. Summary: The information is crucial for a judicious use of WES by researchers, but even more so by the clinical immunologist. Copyright (C) 2017 Wolters Kluwer Health, Inc. All rights reserved.

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