= Schematic overview of BBMRI/GvNL pipelines = Input: * Raw read data from BGI 12x (FASTQ) * Called variants from BGI (VCF) * Immunochip data {{{ #!graphviz digraph G { BGI->FASTQ->"SNP and indel calling"->VCF FASTQ->"de novo variant discovery and verification" BGI->VCF->"Chip QC"->"Qced Genotypes" ImmunoChip->"Chip QC" VCF->"Mendelian QC"->"Qced Genotypes" "Qced Genotypes"->"Call improvement and phasing"->"Improved and phased genotypes"->Imputations "Improved and phased genotypes"->"Population genetics" "Improved and phased genotypes"->"Functional variants" "Improved and phased genotypes"->"Novel variant discovery and verification" FASTQ->"Novel variant discovery and verification" } }}} }}}