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Review on next generation sequencing in the diagnosis of primary immunodeficiencies

on October 24, 2022

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This is a review I wrote as a part of my master thesis. For the full (open access article see: here).

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Clinical exome sequencing data from patients with inborn errors of immunity: Cohort level diagnostic yield and the benefit of systematic reanalysis

https://www.sciencedirect.com/science/article/pii/S1521661624004844

Immunodeficiency gene tables from the 2022 IUIS classification

Recently, the 2024 IUIS gene classification for Inborn Errors of Immunity was published. Again, the tables in this article are not available as excel, txt or otherwise. I have again made a structured file from these tables. Download the gene list here .

Immunodeficiency gene tables from the 2022 IUIS classification

The 2022 IUIS gene classification for Inborn Errors of Immunity were published in June this year. Unfortunately, the tables in this article are not available as excel, txt or otherwise and are just images of the tables. I went through all the tables and copied the gene names, which are available here as a .tsv file, with one column for the table number as devised by the IUIS, and one for the gene names (contains duplicates). Download the gene list here .

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Review on next generation sequencing in the diagnosis of primary immunodeficiencies

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