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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
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
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
Automated analyses with multiple datasets from the same individual
#150 opened Jun 30, 2022 by Madelinehazel
Intermediate file cleanup
#125 opened Feb 24, 2022 by Madelinehazel
Add CLNSIGCONF to VCFs and report
#118 opened Jan 31, 2022 by Madelinehazel
ExpansionHunter updates 2021-10 release
#86 opened Oct 1, 2021 by Madelinehazel
1 of 2 tasks
@aarthi-mohan
1
Create slurm profile CHEO-RI space
#35 opened Apr 14, 2021 by Madelinehazel
1
ProTip! What’s not been updated in a month: updated:<2025-02-28.