Issues
- 0
Non-coding variant annotation: GREEN-DB
#186 opened by Madelinehazel - 1
Add ReMM score to crg2-hg38
#220 opened by Madelinehazel - 0
- 0
Consolidate and move annotation files
#221 opened by Madelinehazel - 0
AlphaMissense for hg38
#219 opened by anjalijain22 - 0
Update CADD to v1.7
#218 opened by pamelaxu213 - 0
PacBio: phasing for small variant reports
#188 opened by Madelinehazel - 0
AlphaMissense
#184 opened by Madelinehazel - 0
- 0
- 0
Upgrade mity to v1.0.0 for GRCh37 crg2 pipeline
#210 opened by anjalijain22 - 1
Incorporate LINSIGHT into annotation pipeline
#203 opened by Madelinehazel - 0
Incorporate FATHMM-XF into annotation pipeline
#208 opened by Madelinehazel - 1
Add phasing information to report
#207 opened by Madelinehazel - 0
Incorporate ncER into annotation pipeline
#206 opened by Madelinehazel - 0
Non-coding variant effect prediction: DeepCT
#197 opened by Madelinehazel - 1
- 0
gnomAD update
#183 opened by Madelinehazel - 0
Report generation: trio report using slivar
#202 opened by pamelaxu213 - 0
Benchmark hg38: WES
#189 opened by Madelinehazel - 0
Benchmark hg38: WGS
#190 opened by Madelinehazel - 0
UTRAnnotator 5'UTR variants
#201 opened by pamelaxu213 - 0
- 0
Non-coding variant effect prediction: SEI
#198 opened by Madelinehazel - 0
RegVar 3'UTR
#192 opened by Madelinehazel - 0
MT for hg38
#182 opened by Madelinehazel - 0
Mosaic SV/CNVs?
#196 opened by Madelinehazel - 0
GATK-DRAGEN variant calling
#195 opened by Madelinehazel - 0
PhenoSV for structural variant prioritization
#194 opened by Madelinehazel - 0
Protein domains
#193 opened by Madelinehazel - 0
STRs for hg38
#187 opened by Madelinehazel - 0
- 2
BQSR doubles bam size
#137 opened by Madelinehazel - 1
VCFs as possible pipeline input
#124 opened by NourHanafi - 1
Recal folder contains 2 index files per BAM
#112 opened by NourHanafi - 0
- 0
Intermediate file cleanup
#125 opened by Madelinehazel - 0
Change GATK MQ filter to < 30
#117 opened by Madelinehazel - 0
Add CLNSIGCONF to VCFs and report
#118 opened by Madelinehazel - 0
Remove unused VEP plug-in arguments
#107 opened by Madelinehazel - 0
Reset filter column set by platypus
#87 opened by aarthi-mohan - 1
Update annotations
#85 opened by Madelinehazel - 0
Create a genome-wide C4R in-house database
#90 opened by Madelinehazel - 0
Remove AF-based filters
#100 opened by Madelinehazel - 0
De novo report: add annotations
#84 opened by Madelinehazel - 0
- 0
Ignoring ped files for non-trio families
#105 opened by NourHanafi - 0
- 0
Add CADD scores for all variants
#91 opened by Madelinehazel - 1
ExpansionHunter updates
#86 opened by Madelinehazel