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39 Open 43 Closed
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Issues list

Look at combining hg19 and hg38 branches into one branch
#222 opened Jun 25, 2024 by Madelinehazel
Consolidate and move annotation files
#221 opened Jun 25, 2024 by Madelinehazel
Add ReMM score to crg2-hg38
#220 opened Jun 25, 2024 by Madelinehazel
@pamelaxu213
1
AlphaMissense for hg38
#219 opened Jun 25, 2024 by anjalijain22
@anjalijain22
Update CADD to v1.7
#218 opened Jun 25, 2024 by pamelaxu213
@pamelaxu213
Upgrade mity to v1.0.0 for GRCh37 crg2 pipeline
#210 opened Mar 26, 2024 by anjalijain22
@anjalijain22 @il-abbasi
Incorporate FATHMM-XF into annotation pipeline
#208 opened Mar 6, 2024 by Madelinehazel
@r-varan
Incorporate ncER into annotation pipeline
#206 opened Mar 5, 2024 by Madelinehazel
@il-abbasi
Incorporate LINSIGHT into annotation pipeline
#203 opened Feb 26, 2024 by Madelinehazel
@suzanahmad
1
Report generation: trio report using slivar
#202 opened Feb 12, 2024 by pamelaxu213
UTRAnnotator 5'UTR variants
#201 opened Feb 5, 2024 by pamelaxu213
Non-coding variant effect prediction: DeepFormer
#200 opened Feb 5, 2024 by Madelinehazel
Non-coding variant effect prediction: SEI
#198 opened Feb 5, 2024 by Madelinehazel
Non-coding variant effect prediction: DeepCT
#197 opened Feb 5, 2024 by Madelinehazel
Mosaic SV/CNVs?
#196 opened Jan 22, 2024 by Madelinehazel
GATK-DRAGEN variant calling
#195 opened Jan 22, 2024 by Madelinehazel
PhenoSV for structural variant prioritization
#194 opened Jan 22, 2024 by Madelinehazel
Protein domains
#193 opened Jan 22, 2024 by Madelinehazel
RegVar 3'UTR
#192 opened Jan 22, 2024 by Madelinehazel
@pamelaxu213
SV reports: add in read depth and alt allele depth (and maybe genotype)
#191 opened Jan 22, 2024 by Madelinehazel
@r-varan
Benchmark hg38: WGS
#190 opened Jan 22, 2024 by Madelinehazel
@il-abbasi
Benchmark hg38: WES
#189 opened Jan 22, 2024 by Madelinehazel
@il-abbasi
STRs for hg38
#187 opened Jan 22, 2024 by Madelinehazel
gnomAD update
#183 opened Jan 22, 2024 by Madelinehazel
@anjalijain22 @r-varan
MT for hg38
#182 opened Jan 22, 2024 by Madelinehazel
@anjalijain22
ProTip! no:milestone will show everything without a milestone.