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RareDiseasePrioritisation
Prioritise cell-type-specific gene targets from the Rare Disease Celltyping project.
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Consider adjusting weights of each severity metric
#38
bschilder
closed
4 months ago
0
Update quarto file and render html
#36
bschilder
closed
4 months ago
0
Check counts for on-target validation plot
#35
bschilder
closed
6 months ago
1
Filter by frequency
#34
bschilder
closed
9 months ago
3
Assess existence of experimental models
#33
bschilder
closed
7 months ago
15
Generate table of all phenotypes ranked by GPT-annotated severity
#32
bschilder
closed
10 months ago
1
Write initial draft of HPO GPT annotations manuscript
#31
bschilder
closed
5 months ago
11
Prioritise therapeutic candidates for nervous system phenotypes
#30
bschilder
closed
11 months ago
1
Repeat phenotype-level enrichment analyses using EWCE
#29
bschilder
closed
9 months ago
19
Prepare cardio results
#28
bschilder
closed
1 year ago
1
Add evidence scores to gene associations
#27
bschilder
closed
1 year ago
4
Access to full data from OMIM/DECIPHER/Orphanet
#26
bschilder
closed
1 year ago
1
Repeat symptom-level enrichment analyses using EWCE
#25
bschilder
closed
7 months ago
1
Explain methods diagrammatically
#24
bschilder
closed
11 months ago
4
Assess whether cell types predict clinical course
#23
bschilder
closed
7 months ago
9
Investigate the intersection between dementia/neurodegeneration vs. diabetes/dementia
#22
bschilder
closed
1 year ago
1
Identify neurodegeneration-related results
#21
bschilder
closed
1 year ago
0
Generate report on the number of HPO disease modifiers
#20
bschilder
closed
1 year ago
5
Annotate diseases/phenotypes using chatGPT
#19
bschilder
closed
9 months ago
18
Filter based on disease-level
#18
bschilder
closed
1 year ago
8
Adjust filtering parameters
#17
bschilder
closed
1 year ago
7
Add rmarkdown report
#16
bschilder
closed
1 year ago
1
Replicate Momoko's analyses with code
#15
bschilder
closed
1 year ago
1
Are all the cell types targeted in clinical trials temrinally differentiated?
#14
momokootani
closed
1 year ago
1
Targets for AAVs
#13
momokootani
closed
1 year ago
1
HPO terms equivalent to each tier
#12
momokootani
closed
1 year ago
1
Hypergeometric test
#11
momokootani
closed
1 year ago
0
Gene associations
#10
momokootani
closed
2 years ago
0
Genes associated with phenotypes
#9
momokootani
closed
1 year ago
1
Get a spreadsheet with all phenotype and celltype associations
#8
NathanSkene
closed
1 year ago
2
Read about OMIM and HPO... understand the data that's in there... how does it get there? Can it be used to infer prevalence in any way?
#7
NathanSkene
closed
1 year ago
1
How can we systematically say "is this targetable in adulthood?". E.g. short femur is not targetable with gene therapy... not having a heart attack is targetable
#6
NathanSkene
closed
1 year ago
1
Is there any quantification of the severity of a phenotype? E.g. death is worse than being short.
#5
NathanSkene
closed
1 year ago
1
How can we get data on the prevalence of a particular phenotype?
#4
NathanSkene
closed
1 year ago
4
Understand how to use the data portal that Bobby developed
#3
NathanSkene
closed
1 year ago
1
Read Bobby's report and understand the data that we have
#2
NathanSkene
closed
1 year ago
1
Understand why AAV's are better for targeting some cell types than others: select which of our cell types are best candidates for gene therapy
#1
NathanSkene
closed
1 year ago
1