> For the complete documentation index, see [llms.txt](https://finngen.gitbook.io/documentation/llms.txt). Markdown versions of documentation pages are available by appending `.md` to page URLs; this page is available as [Markdown](https://finngen.gitbook.io/documentation/r2/methods/lof-burden.md).

# Loss of function burden

We estimated the loss of function (LoF) burden of each gene on every endpoint.&#x20;

First, we calculated per individual and gene whether any loss of function variant(s) was present, yielding a $$n \times p$$ matrix with 0 and 1 values ( $$n$$being the number of individuals and $$p$$ the number of genes).&#x20;

Then we used the new summarised variables as input in the SAIGE GWAS, replacing the genotype matrix that was used in the regular GWAS.&#x20;