Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study

Trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity: A retrospective cohort study

Background: De novo variants (DNVs) are currently not routinely evaluated as part of diagnostic whole exome sequencing (WES) analysis in patients with suspected inborn errors of immunity (IEI). Methods: This study explored the potential added value of systematic assessment of DNVs in a retrospective...

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Main Authors: Anne Hebert, Annet Simons, Janneke HM Schuurs-Hoeijmakers, Hans JPM Koenen, Evelien Zonneveld-Huijssoon, Stefanie SV Henriet, Ellen JH Schatorjé, Esther PAH Hoppenreijs, Erika KSM Leenders, Etienne JM Janssen, Gijs WE Santen, Sonja A de Munnik, Simon V van Reijmersdal, Esther van Rijssen, Simone Kersten, Mihai G Netea, Ruben L Smeets, Frank L van de Veerdonk, Alexander Hoischen, Caspar I van der Made
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2022-10-01
Series:eLife
Subjects:
trio-based whole exome sequencing
de novo variants
inborn errors of immunity
primary immunodeficiencies
Online Access:https://elifesciences.org/articles/78469

Internet

https://elifesciences.org/articles/78469

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