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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Detalles Bibliográficos
Autores principales: Hebert, Anne, Simons, Annet, Schuurs-Hoeijmakers, Janneke HM, Koenen, Hans JPM, Zonneveld-Huijssoon, Evelien, Henriet, Stefanie SV, Schatorjé, Ellen JH, Hoppenreijs, Esther PAH, Leenders, Erika KSM, Janssen, Etienne JM, Santen, Gijs WE, de Munnik, Sonja A, van Reijmersdal, Simon V, van Rijssen, Esther, Kersten, Simone, Netea, Mihai G, Smeets, Ruben L, van de Veerdonk, Frank L, Hoischen, Alexander, van der Made, Caspar I
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2022
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9635875/
https://www.ncbi.nlm.nih.gov/pubmed/36250618
http://dx.doi.org/10.7554/eLife.78469

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