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Add scores according to the variant effect on splicing #558

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jtarraga opened this issue Jun 22, 2021 · 0 comments
Open

Add scores according to the variant effect on splicing #558

jtarraga opened this issue Jun 22, 2021 · 0 comments
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@jtarraga
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enhancement

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@jtarraga
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CellBase should annotates genetic variants with their predicted effect on splicing. CellBase will use the SpliceAI package to compute these scores.
@jtarraga jtarraga self-assigned this Jun 22, 2021
jtarraga added a commit that referenced this issue Jul 12, 2021
@jtarraga
lib: add splice builder to compute splice scores based on SpliceAI, #558
617e64c
jtarraga added a commit that referenced this issue Jul 12, 2021
@jtarraga
app: load splice scores, #558
3f1c55f
jtarraga added a commit that referenced this issue Aug 26, 2021
@jtarraga
lib: improve tmp folder when building splice scores, #558
01f0cff
jtarraga added a commit that referenced this issue Nov 26, 2021
@jtarraga
lib: minor changes, #558
48d6699
jtarraga added a commit that referenced this issue Nov 26, 2021
@jtarraga
lib: improve build and load for MMSplice scores, #558
2571ad8
jtarraga added a commit that referenced this issue Dec 9, 2021
@jtarraga
lib: improve splice score support, #558
9fc6744
jtarraga added a commit that referenced this issue Dec 9, 2021
@jtarraga
lib: remove SpliceAIBuildExecutor, #558
21d9db1
jtarraga added a commit that referenced this issue Jan 21, 2022
@jtarraga
app: major improvements to support splice scores (e.g., MMSplice spli…
8497984 
…ces), #558
jtarraga added a commit that referenced this issue Jan 21, 2022
@jtarraga
lib: support multiple splice score sources, #558
8b82e8b
jtarraga added a commit that referenced this issue Feb 9, 2022
@jtarraga
lib: parse SpliceAI VCF files for building SpliceScore JSON files by …
12aec79 
…chromosome, #558
jtarraga added a commit that referenced this issue Feb 9, 2022
@jtarraga
lib: improvements in splice score builder, #558
15abfce
jtarraga added a commit that referenced this issue Feb 9, 2022
@jtarraga
lib: improve splice score support, #558
eb4bb3b
jtarraga added a commit that referenced this issue Feb 9, 2022
@jtarraga
lib: minor change, #558
7c48633
jtarraga added a commit that referenced this issue Feb 10, 2022
@jtarraga
Resolve conflicts after merging #558
27cc1f7
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