Article
Frequently used bioinformatics tools overestimate the damaging effect of allelic variants.
Genes and immunity - 1 Jan 2019
Andersen Line Lykke, Terczyńska-Dyla Ewa, Mørk Nanna, Scavenius Carsten, Enghild Jan J, Höning Klara, Hornung Veit, Christiansen Mette, Mogensen Trine H, Hartmann Rune
Abstract excerpt
We selected two sets of naturally occurring human missense allelic variants within innate immune genes. The first set represented eleven non-synonymous variants in six different genes involved in interferon (IFN) induction, present in a cohort of patients suffering from herpes simplex encephalitis (HSE) and the second set represented sixteen allelic variants of the IFNLR1 gene. We recreated the variants in vitro...
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