Table 1 Variant filtering and analysis scheme.
From: TBK1 and TNFRSF13B mutations and an autoinflammatory disease in a child with lethal COVID-19
Step | Number of variants |
|---|---|
Trio exome sequencing | 111,596 |
Annotation and filtering with Ensembl VEP | |
Filter 1: AF <2 % in population subcohorts, <5 x homozygous occurrences in gnomAD exomes v2.1.1 | 7,031 |
Filter 2: VEP impact HIGH or MODERATE or SpliceAI score >0.1 | 841 |
Prioritization | |
1) Variants in candidate genes of phenotypic relevance | 92 |
2) Variants segregating in compliance with a Mendelian Disease (full penetrance) | 65 |
Variants shared between (1) and (2) (these variants can be found in Supplementary Data 1) | 7 (genes: TTN (2x), DNM1L, TBK1, TNFRSF13B, and RUNX1 (2x)) |
Variants considered relevant to the severe COVID-19 disease course | 2 (genes: TBK1 and TNFRSF13B) |
