From b2237122e290a5e694a96904eeaaa5bc261b02b9 Mon Sep 17 00:00:00 2001 From: Miguel Brown Date: Tue, 17 Sep 2024 11:54:01 -0400 Subject: [PATCH] Update README.md Co-authored-by: Dan Miller --- README.md | 2 +- 1 file changed, 1 insertion(+), 1 deletion(-) diff --git a/README.md b/README.md index 18929d5..9204596 100644 --- a/README.md +++ b/README.md @@ -54,7 +54,7 @@ Note: Not all outputs are available from the Kids First Portal. If there is an o - `collectvariantcallingmetrics`: Variant calling summary and detailed metrics files - `peddy_html`: html summary of peddy results - `peddy_ped`: ped format summary of peddy results - - `cgp_vep_annotated_vcf`: Variant Effect Predictor annotated VCF files. File suffix tyically `.multi.vqsr.filtered.denovo.vep_105.vcf.gz` .Contains joint calls with the following: + - `cgp_vep_annotated_vcf`: Variant Effect Predictor annotated VCF files. File suffix tyically `.multi.vqsr.filtered.denovo.vep_105.vcf.gz`. Contains joint calls with the following: - `lowGQ` FILTER `GQ < 20.0`. - Genotype posterior probabilities. See [here](https://gatk.broadinstitute.org/hc/en-us/articles/360037226592-CalculateGenotypePosteriors) for an explanation - INFO tags of `hiConfDeNovo`, `loConfDeNovo`. See [here](https://gatk.broadinstitute.org/hc/en-us/articles/4409924802331-PossibleDeNovo) for more info