René's URL Explorer Experiment


Title: GitHub - FunctionLab/DIS: Interpretable DIS+ AI framework for disease-specific variant pathogenicity

Open Graph Title: GitHub - FunctionLab/DIS: Interpretable DIS+ AI framework for disease-specific variant pathogenicity

X Title: GitHub - FunctionLab/DIS: Interpretable DIS+ AI framework for disease-specific variant pathogenicity

Description: Interpretable DIS+ AI framework for disease-specific variant pathogenicity - FunctionLab/DIS

Open Graph Description: Interpretable DIS+ AI framework for disease-specific variant pathogenicity - FunctionLab/DIS

X Description: Interpretable DIS+ AI framework for disease-specific variant pathogenicity - FunctionLab/DIS

Mail addresses
yhao@flatironinstitute.org

Opengraph URL: https://github.com/FunctionLab/DIS

X: @github

direct link

Domain: patch-diff.githubusercontent.com

route-pattern/:user_id/:repository
route-controllerfiles
route-actiondisambiguate
fetch-noncev2:c7fcbc89-ed84-5fa2-eafd-cca07bc336aa
current-catalog-service-hashf3abb0cc802f3d7b95fc8762b94bdcb13bf39634c40c357301c4aa1d67a256fb
request-id8690:2D5837:8B137F:B1DC89:697DFE53
html-safe-noncea6cf8de76272ebe6476464a9492d0cd5cbee5fe80180ce05438c7dd6fed2005d
visitor-payloadeyJyZWZlcnJlciI6IiIsInJlcXVlc3RfaWQiOiI4NjkwOjJENTgzNzo4QjEzN0Y6QjFEQzg5OjY5N0RGRTUzIiwidmlzaXRvcl9pZCI6IjUwMTUyMjY3NTA1OTkwMzY0OTkiLCJyZWdpb25fZWRnZSI6ImlhZCIsInJlZ2lvbl9yZW5kZXIiOiJpYWQifQ==
visitor-hmacf37429349007a6f59635df7557ce46d0f256793ff76001b9cc2cbac8077177bd
hovercard-subject-tagrepository:1114710409
github-keyboard-shortcutsrepository,copilot
google-site-verificationApib7-x98H0j5cPqHWwSMm6dNU4GmODRoqxLiDzdx9I
octolytics-urlhttps://collector.github.com/github/collect
analytics-location//
fb:app_id1401488693436528
apple-itunes-appapp-id=1477376905, app-argument=https://github.com/FunctionLab/DIS
twitter:imagehttps://opengraph.githubassets.com/21efe25688d74b9dc4457569c33f73049ea4934579d98b2df6d67de6d6553b34/FunctionLab/DIS
twitter:cardsummary_large_image
og:imagehttps://opengraph.githubassets.com/21efe25688d74b9dc4457569c33f73049ea4934579d98b2df6d67de6d6553b34/FunctionLab/DIS
og:image:altInterpretable DIS+ AI framework for disease-specific variant pathogenicity - FunctionLab/DIS
og:image:width1200
og:image:height600
og:site_nameGitHub
og:typeobject
hostnamegithub.com
expected-hostnamegithub.com
None60279d4097367e16897439d16d6bbe4180663db828c666eeed2656988ffe59f6
turbo-cache-controlno-preview
go-importgithub.com/FunctionLab/DIS git https://github.com/FunctionLab/DIS.git
octolytics-dimension-user_id566555
octolytics-dimension-user_loginFunctionLab
octolytics-dimension-repository_id1114710409
octolytics-dimension-repository_nwoFunctionLab/DIS
octolytics-dimension-repository_publictrue
octolytics-dimension-repository_is_forkfalse
octolytics-dimension-repository_network_root_id1114710409
octolytics-dimension-repository_network_root_nwoFunctionLab/DIS
turbo-body-classeslogged-out env-production page-responsive
disable-turbofalse
browser-stats-urlhttps://api.github.com/_private/browser/stats
browser-errors-urlhttps://api.github.com/_private/browser/errors
release7c85641c598ad130c74f7bcc27f58575cac69551
ui-targetfull
theme-color#1e2327
color-schemelight dark

Links:

Skip to contenthttps://patch-diff.githubusercontent.com/FunctionLab/DIS#start-of-content
https://patch-diff.githubusercontent.com/
Sign in https://patch-diff.githubusercontent.com/login?return_to=https%3A%2F%2Fgithub.com%2FFunctionLab%2FDIS
GitHub CopilotWrite better code with AIhttps://github.com/features/copilot
GitHub SparkBuild and deploy intelligent appshttps://github.com/features/spark
GitHub ModelsManage and compare promptshttps://github.com/features/models
MCP RegistryNewIntegrate external toolshttps://github.com/mcp
ActionsAutomate any workflowhttps://github.com/features/actions
CodespacesInstant dev environmentshttps://github.com/features/codespaces
IssuesPlan and track workhttps://github.com/features/issues
Code ReviewManage code changeshttps://github.com/features/code-review
GitHub Advanced SecurityFind and fix vulnerabilitieshttps://github.com/security/advanced-security
Code securitySecure your code as you buildhttps://github.com/security/advanced-security/code-security
Secret protectionStop leaks before they starthttps://github.com/security/advanced-security/secret-protection
Why GitHubhttps://github.com/why-github
Documentationhttps://docs.github.com
Bloghttps://github.blog
Changeloghttps://github.blog/changelog
Marketplacehttps://github.com/marketplace
View all featureshttps://github.com/features
Enterpriseshttps://github.com/enterprise
Small and medium teamshttps://github.com/team
Startupshttps://github.com/enterprise/startups
Nonprofitshttps://github.com/solutions/industry/nonprofits
App Modernizationhttps://github.com/solutions/use-case/app-modernization
DevSecOpshttps://github.com/solutions/use-case/devsecops
DevOpshttps://github.com/solutions/use-case/devops
CI/CDhttps://github.com/solutions/use-case/ci-cd
View all use caseshttps://github.com/solutions/use-case
Healthcarehttps://github.com/solutions/industry/healthcare
Financial serviceshttps://github.com/solutions/industry/financial-services
Manufacturinghttps://github.com/solutions/industry/manufacturing
Governmenthttps://github.com/solutions/industry/government
View all industrieshttps://github.com/solutions/industry
View all solutionshttps://github.com/solutions
AIhttps://github.com/resources/articles?topic=ai
Software Developmenthttps://github.com/resources/articles?topic=software-development
DevOpshttps://github.com/resources/articles?topic=devops
Securityhttps://github.com/resources/articles?topic=security
View all topicshttps://github.com/resources/articles
Customer storieshttps://github.com/customer-stories
Events & webinarshttps://github.com/resources/events
Ebooks & reportshttps://github.com/resources/whitepapers
Business insightshttps://github.com/solutions/executive-insights
GitHub Skillshttps://skills.github.com
Documentationhttps://docs.github.com
Customer supporthttps://support.github.com
Community forumhttps://github.com/orgs/community/discussions
Trust centerhttps://github.com/trust-center
Partnershttps://github.com/partners
GitHub SponsorsFund open source developershttps://github.com/sponsors
Security Labhttps://securitylab.github.com
Maintainer Communityhttps://maintainers.github.com
Acceleratorhttps://github.com/accelerator
Archive Programhttps://archiveprogram.github.com
Topicshttps://github.com/topics
Trendinghttps://github.com/trending
Collectionshttps://github.com/collections
Enterprise platformAI-powered developer platformhttps://github.com/enterprise
GitHub Advanced SecurityEnterprise-grade security featureshttps://github.com/security/advanced-security
Copilot for BusinessEnterprise-grade AI featureshttps://github.com/features/copilot/copilot-business
Premium SupportEnterprise-grade 24/7 supporthttps://github.com/premium-support
Pricinghttps://github.com/pricing
Search syntax tipshttps://docs.github.com/search-github/github-code-search/understanding-github-code-search-syntax
documentationhttps://docs.github.com/search-github/github-code-search/understanding-github-code-search-syntax
Sign in https://patch-diff.githubusercontent.com/login?return_to=https%3A%2F%2Fgithub.com%2FFunctionLab%2FDIS
Sign up https://patch-diff.githubusercontent.com/signup?ref_cta=Sign+up&ref_loc=header+logged+out&ref_page=%2F%3Cuser-name%3E%2F%3Crepo-name%3E&source=header-repo&source_repo=FunctionLab%2FDIS
Reloadhttps://patch-diff.githubusercontent.com/FunctionLab/DIS
Reloadhttps://patch-diff.githubusercontent.com/FunctionLab/DIS
Reloadhttps://patch-diff.githubusercontent.com/FunctionLab/DIS
FunctionLab https://patch-diff.githubusercontent.com/FunctionLab
DIShttps://patch-diff.githubusercontent.com/FunctionLab/DIS
Notifications https://patch-diff.githubusercontent.com/login?return_to=%2FFunctionLab%2FDIS
Fork 0 https://patch-diff.githubusercontent.com/login?return_to=%2FFunctionLab%2FDIS
Star 1 https://patch-diff.githubusercontent.com/login?return_to=%2FFunctionLab%2FDIS
View license https://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/LICENSE.md
1 star https://patch-diff.githubusercontent.com/FunctionLab/DIS/stargazers
0 forks https://patch-diff.githubusercontent.com/FunctionLab/DIS/forks
Branches https://patch-diff.githubusercontent.com/FunctionLab/DIS/branches
Tags https://patch-diff.githubusercontent.com/FunctionLab/DIS/tags
Activity https://patch-diff.githubusercontent.com/FunctionLab/DIS/activity
Star https://patch-diff.githubusercontent.com/login?return_to=%2FFunctionLab%2FDIS
Notifications https://patch-diff.githubusercontent.com/login?return_to=%2FFunctionLab%2FDIS
Code https://patch-diff.githubusercontent.com/FunctionLab/DIS
Issues 0 https://patch-diff.githubusercontent.com/FunctionLab/DIS/issues
Pull requests 0 https://patch-diff.githubusercontent.com/FunctionLab/DIS/pulls
Actions https://patch-diff.githubusercontent.com/FunctionLab/DIS/actions
Projects 0 https://patch-diff.githubusercontent.com/FunctionLab/DIS/projects
Security 0 https://patch-diff.githubusercontent.com/FunctionLab/DIS/security
Insights https://patch-diff.githubusercontent.com/FunctionLab/DIS/pulse
Code https://patch-diff.githubusercontent.com/FunctionLab/DIS
Issues https://patch-diff.githubusercontent.com/FunctionLab/DIS/issues
Pull requests https://patch-diff.githubusercontent.com/FunctionLab/DIS/pulls
Actions https://patch-diff.githubusercontent.com/FunctionLab/DIS/actions
Projects https://patch-diff.githubusercontent.com/FunctionLab/DIS/projects
Security https://patch-diff.githubusercontent.com/FunctionLab/DIS/security
Insights https://patch-diff.githubusercontent.com/FunctionLab/DIS/pulse
Brancheshttps://patch-diff.githubusercontent.com/FunctionLab/DIS/branches
Tagshttps://patch-diff.githubusercontent.com/FunctionLab/DIS/tags
https://patch-diff.githubusercontent.com/FunctionLab/DIS/branches
https://patch-diff.githubusercontent.com/FunctionLab/DIS/tags
5 Commitshttps://patch-diff.githubusercontent.com/FunctionLab/DIS/commits/main/
https://patch-diff.githubusercontent.com/FunctionLab/DIS/commits/main/
imagehttps://patch-diff.githubusercontent.com/FunctionLab/DIS/tree/main/image
imagehttps://patch-diff.githubusercontent.com/FunctionLab/DIS/tree/main/image
srchttps://patch-diff.githubusercontent.com/FunctionLab/DIS/tree/main/src
srchttps://patch-diff.githubusercontent.com/FunctionLab/DIS/tree/main/src
testhttps://patch-diff.githubusercontent.com/FunctionLab/DIS/tree/main/test
testhttps://patch-diff.githubusercontent.com/FunctionLab/DIS/tree/main/test
LICENSE.mdhttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/LICENSE.md
LICENSE.mdhttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/LICENSE.md
README.mdhttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/README.md
README.mdhttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/README.md
download_resources.shhttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/download_resources.sh
download_resources.shhttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/download_resources.sh
explain.pyhttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/explain.py
explain.pyhttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/explain.py
predict.pyhttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/predict.py
predict.pyhttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/predict.py
requirements.txthttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/requirements.txt
requirements.txthttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/requirements.txt
train.pyhttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/train.py
train.pyhttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/train.py
READMEhttps://patch-diff.githubusercontent.com/FunctionLab/DIS
Licensehttps://patch-diff.githubusercontent.com/FunctionLab/DIS
https://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/image/DIS+_logo.png
https://patch-diff.githubusercontent.com/FunctionLab/DIS#dis-interpretable-variant-pathogenicity-scores-with-disease-specific-resolution
https://patch-diff.githubusercontent.com/FunctionLab/DIS#description-of-dis
https://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/image/DIS+_workflow.png
https://patch-diff.githubusercontent.com/FunctionLab/DIS#setup
https://patch-diff.githubusercontent.com/FunctionLab/DIS#requirements
herehttps://pytorch.org/
https://patch-diff.githubusercontent.com/FunctionLab/DIS#install
DIS+ modelhttps://doi.org/10.5281/zenodo.17902015
DIS+ resourcehttps://doi.org/10.5281/zenodo.17902415
https://patch-diff.githubusercontent.com/FunctionLab/DIS#usage
https://patch-diff.githubusercontent.com/FunctionLab/DIS#predicting-dis-for-regulatory-variants
example bash scripthttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/test/predict/test_var_predict.sh
examplehttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/test/predict/test_var.vcf
examplehttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/test/test_seqweaver/ptr_embedding/test_var.vcf_gene_annotated_diffs.h5
https://patch-diff.githubusercontent.com/FunctionLab/DIS#pre-training-conditioned-on-variant-ancestry-group-membership
examplehttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/test/pre_train/valid_file_map_10E-4.csv
examplehttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/test/pre_train/valid_file_map_10E-4.csv
examplehttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/test/pre_train/seqweaver_valid_exclusion_global.txt
examplehttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/test/pre_train/seqweaver_valid_exclusion_global.txt
https://patch-diff.githubusercontent.com/FunctionLab/DIS#fine-tuning-with-ontology-guided-disease-specific-pathogenicity-classification
examplehttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/test/test_seqweaver/ptr_embedding/test_var.vcf_gene_annotated_diffs.h5
examplehttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/test/fine_tune/DO_seqweaver_HGMD_valid_var_node_map.h5
examplehttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/test/test_seqweaver/ptr_embedding/test_var.vcf_gene_annotated_diffs.h5
examplehttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/test/fine_tune/DO_seqweaver_NEUTRAL_valid_var_node_map_5kb.h5
examplehttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/test/test_seqweaver/ptr_embedding/test_var.vcf_gene_annotated_diffs.h5
examplehttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/test/fine_tune/DO_seqweaver_HGMD_valid_var_node_map.h5
examplehttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/test/test_seqweaver/ptr_embedding/test_var.vcf_gene_annotated_diffs.h5
examplehttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/test/fine_tune/DO_seqweaver_NEUTRAL_valid_var_node_map_5kb.h5
examplehttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/test/fine_tune/DO_seqweaver_noncoding_parsed_250_node_parent.tsv
examplehttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/test/fine_tune/DO_seqweaver_noncoding_parsed_250_node_layer.tsv
examplehttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/test/fine_tune/DO_seqweaver_noncoding_parsed_250_node_weight.tsv
examplehttps://patch-diff.githubusercontent.com/FunctionLab/DIS/blob/main/dis_finetune_mr_seqweaver_noncoding_pretrain_model_info_1.txt
https://patch-diff.githubusercontent.com/FunctionLab/DIS#model-interpretation
https://patch-diff.githubusercontent.com/FunctionLab/DIS#help
Readme https://patch-diff.githubusercontent.com/FunctionLab/DIS#readme-ov-file
View license https://patch-diff.githubusercontent.com/FunctionLab/DIS#License-1-ov-file
Please reload this pagehttps://patch-diff.githubusercontent.com/FunctionLab/DIS
Activityhttps://patch-diff.githubusercontent.com/FunctionLab/DIS/activity
Custom propertieshttps://patch-diff.githubusercontent.com/FunctionLab/DIS/custom-properties
1 starhttps://patch-diff.githubusercontent.com/FunctionLab/DIS/stargazers
0 watchinghttps://patch-diff.githubusercontent.com/FunctionLab/DIS/watchers
0 forkshttps://patch-diff.githubusercontent.com/FunctionLab/DIS/forks
Report repository https://patch-diff.githubusercontent.com/contact/report-content?content_url=https%3A%2F%2Fgithub.com%2FFunctionLab%2FDIS&report=FunctionLab+%28user%29
Releaseshttps://patch-diff.githubusercontent.com/FunctionLab/DIS/releases
Packages 0https://patch-diff.githubusercontent.com/orgs/FunctionLab/packages?repo_name=DIS
Python 99.4% https://patch-diff.githubusercontent.com/FunctionLab/DIS/search?l=python
Shell 0.6% https://patch-diff.githubusercontent.com/FunctionLab/DIS/search?l=shell
https://github.com
Termshttps://docs.github.com/site-policy/github-terms/github-terms-of-service
Privacyhttps://docs.github.com/site-policy/privacy-policies/github-privacy-statement
Securityhttps://github.com/security
Statushttps://www.githubstatus.com/
Communityhttps://github.community/
Docshttps://docs.github.com/
Contacthttps://support.github.com?tags=dotcom-footer

Viewport: width=device-width


URLs of crawlers that visited me.