12 | | BGI->FASTQ->"SNP and indel calling"->VCF |
13 | | FASTQ->"de novo variant discovery and verification" |
14 | | BGI->VCF->"Chip QC"->"Qced Genotypes" |
15 | | ImmunoChip->"Chip QC" |
16 | | VCF->"Mendelian QC"->"Qced Genotypes" |
17 | | "Qced Genotypes"->"Call improvement and phasing"->"Improved and phased genotypes"->Imputations |
18 | | "Improved and phased genotypes"->"Population genetics" |
19 | | "Improved and phased genotypes"->"Functional variants" |
20 | | "Improved and phased genotypes"->"Novel variant discovery and verification" |
21 | | FASTQ->"Novel variant discovery and verification" |
| 12 | ranksep=.75; size = "10,7.5"; |
| 13 | |
| 14 | node[shape=folder] |
| 15 | "Biobanks" |
| 16 | "Sequence Reads (FASTQ)" |
| 17 | "Qced Genotypes (VCF)" |
| 18 | "Coverage report" |
| 19 | "Improved and phased genotypes" |
| 20 | "GWAS control cohorts" |
| 21 | "Imputed GWAS control cohorts" |
| 22 | "Dutch HapMap" |
| 23 | |
| 24 | node[shape=diamond, style=filled, fillcolor=yellow] |
| 25 | |
| 26 | Biobanks->BGI->"Sequence Reads (FASTQ)"->"Alignment"->"SNP and indel calling"->"Chip QC"->"Mendelian QC"->"Qced Genotypes (VCF)" |
| 27 | "Alignment"->"Coverage analysis"->"Coverage report" |
| 28 | BGI->"Chip QC" |
| 29 | Biobanks->ImmunoChip->"Chip QC" |
| 30 | "Qced Genotypes (VCF)"->"Call improvement and phasing"->"Improved and phased genotypes"->Imputations |
| 31 | Biobanks->"GWAS control cohorts"->Imputations->"Imputed GWAS control cohorts" |
| 32 | "Improved and phased genotypes"->"Population genetics"->"Dutch HapMap" |
| 33 | "Improved and phased genotypes"->"Functional variants"->"Dutch HapMap" |
| 34 | "Improved and phased genotypes"->"Novel variant discovery and verification"->"Dutch HapMap" |
| 35 | "Sequence Reads (FASTQ)"->"Novel variant discovery and verification" |
| 36 | "Qced Genotypes (VCF)"->TrioAwarePhasing -> "Improved and phased genotypes" |
| 37 | |