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50e4998
Rename to variant cache pipeline, add brief docs in output header
eweitz Dec 20, 2024
e292805
Write gene byte index for variants
eweitz Dec 21, 2024
c4bb313
Refine gene variant byte index
eweitz Dec 22, 2024
1e0752b
Add relative transcript start coordinates for gene structures
eweitz Dec 23, 2024
0fa166f
Update gene structures, use transcript start offset in frontend
eweitz Dec 23, 2024
c2a3b8b
Add variant cache to cache library
eweitz Dec 25, 2024
cca0e28
Move variant keys to index
eweitz Dec 26, 2024
18a52f1
Draft variant cache worker
eweitz Dec 27, 2024
a046997
Add allele frequency (AF) per ExAC Consortium
eweitz Dec 29, 2024
70e703f
Add rudimentary drawing for variants
eweitz Dec 30, 2024
0f5ce14
Refine graphical positions of genomic variants
eweitz Dec 30, 2024
03e0283
Move RNA and protein if variants found
eweitz Dec 31, 2024
5480064
Vary variant vertical position by significance
eweitz Dec 31, 2024
6c90a5e
Refine variant colors
eweitz Dec 31, 2024
1e36b6e
Add crude variant render in unspliced transcript
eweitz Jan 1, 2025
7f4177a
Add basic variant summary on hover
eweitz Jan 1, 2025
9b9940f
Refine variant summary shown on hover
eweitz Jan 2, 2025
b4c1de4
Further refine variant summary UX
eweitz Jan 3, 2025
6423281
Add origin to variant details
eweitz Jan 3, 2025
7097cae
Use stars for review status, like ClinVar; robustify
eweitz Jan 4, 2025
6aec1ed
Modularize variant triage, show star scale
eweitz Jan 4, 2025
ce2f49f
Refine head, robustify height for variant summary
eweitz Jan 5, 2025
bbe53b0
Improve debuggability, refine horizontal alignment
eweitz Jan 8, 2025
b2d95ee
Add tooltip explaining review status stars
eweitz Jan 8, 2025
30a93e5
Refine tippy tooltip offset
eweitz Jan 8, 2025
b5da01a
Refine handling of disease "not provided"
eweitz Feb 15, 2025
3c5e538
Add variant cache data
eweitz Feb 16, 2025
f1952fa
Merge changes from upstream
eweitz Feb 17, 2025
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6 changes: 3 additions & 3 deletions karma.conf.js
Original file line number Diff line number Diff line change
Expand Up @@ -16,10 +16,10 @@ module.exports = function(config) {
// list of files / patterns to load in the browser
files: [
'src/js/index.js',
'test/offline/**.test.js',
'test/online/**.test.js',
// 'test/offline/**.test.js',
// 'test/online/**.test.js',
// 'test/online/related-genes.test.js',
// 'test/offline/gene-structure.test.js',
'test/offline/gene-structure.test.js',
// 'test/offline/tissue.test.js',
{pattern: 'dist/data/**', watched: false, included: false, served: true, nocache: false}
],
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140 changes: 0 additions & 140 deletions scripts/python/cache/clinvar_cache.py

This file was deleted.

21 changes: 17 additions & 4 deletions scripts/python/cache/gene_structure_cache.py
Original file line number Diff line number Diff line change
Expand Up @@ -262,6 +262,8 @@ def parse_mrna(raw_mrna, biotypes_list):
def build_structures(structures_by_id):
biotypes_list = list(biotypes.keys())

prev_gene = ''

structures = []
for id in structures_by_id:
structure_lists = structures_by_id[id]
Expand All @@ -273,8 +275,19 @@ def build_structures(structures_by_id):

for structure_list in structure_lists[1:]:
subpart = parse_transcript_subpart(structure_list, mrna_start)
structure += [";".join(subpart) ]

structure += [";".join(subpart)]

# Set transcript start coordinate relative to most-upstream transcript
# This enables projecting genomic features (e.g. variants) onto
# transcript coordinates. It also enables viewing multiple transcripts
# in genomic coordinates, like typical genome browsers (Ensembl, IGV).
gene_name = structure[1].split('-')[0]
if gene_name != prev_gene:
gene_start = int(mrna_start) # Start of 1st transcript is gene start
prev_gene = gene_name
mrna_start_offset = str(int(mrna_start) - gene_start)

structure.insert(2, mrna_start_offset)
structures.append(structure)

return structures
Expand All @@ -288,8 +301,8 @@ def parse_structures(canonical_ids, gff_path, gff_url):

Parts of a transcript that comprise "gene structure" here:
* Exons: regions of gene not removed by RNA splicing
* 3'-UTR: Three prime untranslated region; start region
* 5'-UTR: Fix prime untranslated region; end region
* 5'-UTR: Fix prime untranslated region; start region (for +, end for -)
* 3'-UTR: Three prime untranslated region; end region (for +, start for -)

(Introns are the regions between 3'- and 5'-UTRs that are not exons.
These are implied in the structure, and not modeled explicitly.)
Expand Down
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