broadinstitute/seqr

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web-based analysis tool for rare disease genomics

Stars: 219
Forks: 97
Open beginner issues: 0
Indexed issues: 46
Avg merge: 1d 12h
Merged PRs (30d): 21

Dominant language: Python
License: AGPL-3.0
Last GitHub push: Sep 16, 2026
Latest indexed: Sep 20, 2026
Contributing guide: No contributing guide
Code of conduct: Code of conduct
Beginner labels: No beginner labels indexed

Beginner friendly Everything

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46 open issues indexed

replace gsutil calls with gcloud storage [DUE 2026] Open

broadinstitute/seqr#5592 · 1 assignee · Opened Sep 17, 2026
Show 'OMIM descriptions' on hover Open

feature request

Difficulty 4/5 3-5 days Newbie friendliness 55/100

broadinstitute/seqr#5584 · 3 comments · Opened Sep 14, 2026
Add AVI/Phred scores from AlphaGenome Open

feature request

Difficulty 5/5 Over a week Newbie friendliness 42/100

broadinstitute/seqr#5583 · 2 comments · Opened Sep 14, 2026
Feature Request: ClinicalTrials.gov integration module for bridging rare disease genomics to clinical trial matching Open

Difficulty 5/5 Over a week Newbie friendliness 30/100

broadinstitute/seqr#5570 · 1 comment · 1 reaction · Opened Sep 7, 2026
Update constraint metrics to gnomADv4 Open

feature request

broadinstitute/seqr#5563 · 1 assignee · Opened Sep 1, 2026
Add support for DRAGEN SV and CNV calls Open

feature request

broadinstitute/seqr#5542 · 1 assignee · Opened Aug 11, 2026
Refactor delete families queries Open

pipeline

Difficulty 4/5 3-5 days Newbie friendliness 48/100

broadinstitute/seqr#5536 · 1 comment · Opened Aug 6, 2026
Integrate other node's VLM details into seqr lookup UI Open

broadinstitute/seqr#5515 · 1 assignee · Opened Jul 21, 2026
Panelapp Australia upgrading Gencode/Ensembl version Open

bug

Difficulty 5/5 Over a week Newbie friendliness 35/100

broadinstitute/seqr#5470 · 10 comments · Opened Jun 1, 2026
Add Pangolin scores to seqr Open

feature request

broadinstitute/seqr#5454 · 2 comments · 1 assignee · Opened May 26, 2026
504 error - unable to retrieve prioritized variants Open

bug low priority

Difficulty 4/5 3-5 days Newbie friendliness 35/100

broadinstitute/seqr#5385 · 1 comment · Opened Apr 10, 2026
Update scope of manual variants to include unnanotated variants in seqr Open

feature request

Difficulty 5/5 Over a week Newbie friendliness 25/100

broadinstitute/seqr#5181 · Opened Dec 9, 2025
PanelApp gene category customization not being saved Open

feature request

Difficulty 3/5 1-2 days Newbie friendliness 42/100

broadinstitute/seqr#4974 · 4 comments · Opened Aug 29, 2025
Download a table of gs:// paths for CRAMs/BAMs shown in IGV.js Open

feature request

Difficulty 4/5 3-5 days Newbie friendliness 35/100

broadinstitute/seqr#4964 · Opened Aug 28, 2025
Improve BGE validation methods Open

feature request

Difficulty 5/5 Over a week Newbie friendliness 25/100

broadinstitute/seqr#4912 · Opened Aug 5, 2025
Add ancestry for AnVIL data Open

feature request

Difficulty 5/5 Over a week Newbie friendliness 20/100

broadinstitute/seqr#4635 · 2 comments · Opened Feb 4, 2025
Support longread (PacBio) data for AnVIL users Open

feature request Q4

Difficulty 5/5 Over a week Newbie friendliness 20/100

broadinstitute/seqr#4594 · Opened Jan 16, 2025
Move projects to combined ES+GS project Open

feature request

Difficulty 4/5 3-5 days Newbie friendliness 15/100

broadinstitute/seqr#4592 · Opened Jan 16, 2025
Investigate if local seqr’s can be added as a reference database Open

feature request

Difficulty 5/5 Over a week Newbie friendliness 25/100

broadinstitute/seqr#4591 · Opened Jan 16, 2025
Support mitochondrial data for AnVIL users Open

feature request

Difficulty 5/5 Over a week Newbie friendliness 20/100

broadinstitute/seqr#4588 · Opened Jan 16, 2025
Edit manually added SVs Open

feature request

Difficulty 4/5 3-5 days Newbie friendliness 25/100

broadinstitute/seqr#4159 · 1 comment · Opened Jun 11, 2024
Matchmaker exchange emails sent from Seqr are not being sent from GSS email Open

feature request

Difficulty 3/5 1-2 days Newbie friendliness 45/100

broadinstitute/seqr#4068 · 1 comment · Opened May 4, 2024
Add support for SV and gCNV for external AnVIL users Open

Difficulty 5/5 Over a week Newbie friendliness 25/100

broadinstitute/seqr#4048 · Opened Apr 25, 2024
Variant Lookup for all possible variants Open

feature request

broadinstitute/seqr#4021 · 5 comments · 1 assignee · Opened Apr 11, 2024
Improve seqr accessibility Open

Difficulty 5/5 Over a week Newbie friendliness 25/100

broadinstitute/seqr#3701 · 2 comments · 3 reactions · Opened Nov 1, 2023
Support newer versions of `nodejs`. Open

optimization

Difficulty 3/5 1-2 days Newbie friendliness 42/100

broadinstitute/seqr#3640 · 1 comment · Opened Sep 28, 2023
Moving MME_DISCLAIMER to settings.py Open

feature request local installs low priority

Difficulty 2/5 1-3 hours Newbie friendliness 55/100

broadinstitute/seqr#3407 · 1 comment · Opened May 30, 2023
Project page filter - data loaded after date Open

feature request low priority

Difficulty 4/5 3-5 days Newbie friendliness 35/100

broadinstitute/seqr#3378 · 1 comment · Opened May 17, 2023
Map HPO qualifiers to HPO IDs in seqr data structure Open

feature request

Difficulty 4/5 3-5 days Newbie friendliness 35/100

broadinstitute/seqr#3171 · 4 comments · Opened Jan 18, 2023
Edit Families & Individuals - unclear which families will be deleted Open

feature request

Difficulty 3/5 1-2 days Newbie friendliness 35/100

broadinstitute/seqr#2940 · 3 comments · Opened Sep 5, 2022
Add type checking to python code Open

optimization

Difficulty 5/5 Over a week Newbie friendliness 15/100

broadinstitute/seqr#2932 · 5 comments · Opened Aug 30, 2022
Use TypeScript for client side code Open

optimization

Difficulty 5/5 Over a week Newbie friendliness 15/100

broadinstitute/seqr#2931 · 3 comments · Opened Aug 30, 2022
Multisort on Variant Search Results Open

feature request

Difficulty 4/5 3-5 days Newbie friendliness 38/100

broadinstitute/seqr#2771 · 2 comments · Opened Jun 2, 2022
Variant search using multiple gene lists Open

feature request

Difficulty 5/5 Over a week Newbie friendliness 25/100

broadinstitute/seqr#2765 · 7 comments · Opened May 31, 2022
SV pathogenicity predictors Open

feature request pipeline

Difficulty 5/5 Over a week Newbie friendliness 25/100

broadinstitute/seqr#2730 · 1 comment · Opened May 20, 2022
Add a variant page link to primAD Open

feature request pipeline

Difficulty 4/5 3-5 days Newbie friendliness 42/100

broadinstitute/seqr#2547 · 2 comments · Opened Mar 14, 2022
Handle when DP is missing (depth displayed as 32,000) Open

feature request pipeline

Difficulty 3/5 1-2 days Newbie friendliness 35/100

broadinstitute/seqr#2355 · 6 comments · Opened Dec 16, 2021
Consanguinity to pedigree drawing Open

feature request low priority

broadinstitute/seqr#2221 · 4 comments · 1 assignee · Opened Oct 25, 2021
IGV gCNV viewer performance improvement Open

optimization

Difficulty 5/5 Over a week Newbie friendliness 25/100

broadinstitute/seqr#2188 · 3 comments · Opened Oct 18, 2021
Error when creating very large gene lists Open

bug low priority

Difficulty 5/5 Over a week Newbie friendliness 25/100

broadinstitute/seqr#1863 · 1 comment · Opened May 20, 2021
Feature request: be able to upload files (e.g. pdf) to specific projects/samples Open

feature request

Difficulty 5/5 Over a week Newbie friendliness 20/100

broadinstitute/seqr#1760 · 5 comments · Opened Mar 22, 2021
Feature request: enable creation of custom fields for individual/phenotype/projects Open

feature request

Difficulty 5/5 Over a week Newbie friendliness 25/100

broadinstitute/seqr#1758 · 7 comments · Opened Mar 22, 2021
React Hooks? Open

optimization

Difficulty 5/5 Over a week Newbie friendliness 20/100

broadinstitute/seqr#1428 · 2 comments · Opened Aug 18, 2020
MNV flagging Open

feature request

Difficulty 5/5 Over a week Newbie friendliness 25/100

broadinstitute/seqr#1207 · 1 comment · Opened Mar 5, 2020
Allow seqr to deploy on a sub URI path Open

feature request local installs optimization

Difficulty 4/5 3-5 days Newbie friendliness 35/100

broadinstitute/seqr#915 · Opened Jun 20, 2019
automatically test end-to-end deployment and loading of example project Open

testing

Difficulty 4/5 3-5 days Newbie friendliness 35/100

broadinstitute/seqr#265 · Opened Jan 3, 2018

broadinstitute/seqr

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