issues
search
EBIvariation
/
opentargets-pharmgkb
Pipeline to provide evidence strings for Open Targets from PharmGKB
Apache License 2.0
1
stars
1
forks
source link
issues
Newest
Newest
Most commented
Recently updated
Oldest
Least commented
Least recently updated
Add chr_pos_ref_alt variant IDs to non-star allele evidence strings
#44
apriltuesday
opened
1 month ago
0
Variant annotation / direction of effect notebook
#43
apriltuesday
opened
1 month ago
0
Update README with more detailed running instructions
#42
apriltuesday
closed
2 months ago
0
Issue 40: Updates for drugFromSource to support drug combinations
#41
apriltuesday
closed
2 months ago
0
Updates for drugFromSource and drugFromSourceId to support drug combinations
#40
apriltuesday
closed
2 months ago
2
Evidence string generation for 2024.06 release
#39
apriltuesday
closed
1 month ago
0
Support genotype IDs for mitochondrial variants
#38
apriltuesday
opened
2 months ago
0
Issue 36: Improve genotype ID algorithm
#37
apriltuesday
closed
2 months ago
0
Improve gene coverage via improvements to genotype ID algorithm
#36
apriltuesday
closed
2 months ago
0
Review counts and metrics spreadsheet
#35
apriltuesday
opened
5 months ago
0
Evidence string generation for 2024.03 release
#34
apriltuesday
closed
5 months ago
1
Named alleles
#33
apriltuesday
closed
5 months ago
1
Issues 26 & 29: Split pgxCategory and report consequences for ref/ref
#32
apriltuesday
closed
5 months ago
0
Issue 28: Star alleles / named alleles
#31
apriltuesday
closed
5 months ago
0
Improve phenotype EFO mappings
#30
apriltuesday
opened
7 months ago
5
Report overlapping genes & no_sequence_alteration for ref/ref
#29
apriltuesday
closed
5 months ago
0
Investigate clinical annotations without RS IDs
#28
apriltuesday
opened
8 months ago
6
Decide how to report drug IDs
#27
apriltuesday
closed
2 months ago
1
Split pgxCategory when there are multiple values
#26
apriltuesday
closed
5 months ago
1
SOP for evidence submission
#25
apriltuesday
closed
2 months ago
0
Issue 18: Implement genotype IDs to support variants with multiple alleles
#24
apriltuesday
closed
8 months ago
2
Evidence string generation for 2023.12 release
#23
apriltuesday
closed
8 months ago
1
Schema updates and documentation
#22
apriltuesday
closed
10 months ago
1
Compare genes from VEP and genes from PGKB
#21
apriltuesday
closed
3 months ago
6
Extract direction of effect
#20
apriltuesday
opened
10 months ago
3
Document setting up and running the pipeline
#19
apriltuesday
closed
2 months ago
0
Handle multiple alt alleles
#18
apriltuesday
closed
8 months ago
2
Support repeats in genotypes when generating VCF-style variant identifiers
#17
apriltuesday
opened
10 months ago
0
Uniqueness criteria for evidence strings
#16
apriltuesday
opened
10 months ago
0
Generate chr_pos_ref_alt variant identifiers using reference assembly
#15
apriltuesday
closed
10 months ago
0
Add percentages to counts report
#14
apriltuesday
closed
11 months ago
0
Add counts and fix bugs from test run
#13
apriltuesday
closed
11 months ago
0
Finalise and document schema
#12
apriltuesday
closed
10 months ago
1
EVA-3269: Adding publications, phenotype mappings, functional consequences
#11
apriltuesday
closed
1 year ago
4
Add counts to evidence string generation
#10
apriltuesday
closed
11 months ago
0
Map to Ensembl gene IDs and CHEBI IDs
#9
apriltuesday
closed
1 year ago
0
Process drug label data
#8
apriltuesday
opened
1 year ago
0
Add consequence prediction to evidence generation
#7
apriltuesday
closed
1 year ago
0
Add publications to evidence string
#6
apriltuesday
closed
1 year ago
1
Generate chr_pos_ref_alt variant identifiers using reference assembly
#5
apriltuesday
closed
2 months ago
18
Map phenotypes to EFO terms
#4
apriltuesday
closed
1 year ago
1
Map drugs to CHEBI IDs
#3
apriltuesday
closed
1 year ago
0
Convert genes to Ensembl Gene IDs
#2
apriltuesday
closed
1 year ago
0
Preliminary Prototype
#1
apriltuesday
closed
1 year ago
1