Dead Links
April 11, 2026 · View on GitHub
Tools with dead links (404, timeout, connection refused, etc.).
Data Sets
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Hartwig WGS (requires data request): https://www.hartwigmedicalfoundation.nl/en/wgs-database/
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Cloud resource for filtering 1kg data
- http://bamsi.research.it.uu.se/
- Python API: https://github.com/NGDSG/BAMSI-API
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General Programming Resources
C/C++
- Succinct de Bruijn Graphs: http://alexbowe.com/succinct-debruijn-graphs/
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HPC
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Petuum: http://petuum.github.io/
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Efficient tabular storage: http://matthewrocklin.com/blog/work/2015/08/28/Storage/
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Common runtime for various libraries (e.g. Pandas, TensorFlow) that speeds up execution when interfacing the libraries with each other: https://weld-project.github.io/
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Other
- Aether manages bidding for AWS and Azure credits: http://aether.kosticlab.org/
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Python
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RStudio for python: https://www.yhat.com/products/rodeo
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FFI
- GO transplier: https://github.com/google/grumpy
- Calling Rust libraries from python: https://medium.com/@caulagi/complementing-python-with-rust-657a8cb3d066#.6in8v0bte
- pyjamas: javascript bridge
- Status: Archived repo
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skbio: http://scikit-bio.org/docs/0.4.1/index.html
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R
- Applying tidy principals to GRanges: https://bioconductor.org/packages/release/bioc/html/plyranges
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Find packages
- http://www.computerworld.com/article/2497464/business-intelligence/business-intelligence-60-r-resources-to-improve-your-data-skills.html
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Misc
- Find root of current package: https://krlmlr.github.io/here/
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Reporting
- Nozzle: https://confluence.broadinstitute.org/display/GDAC/Nozzle
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Reproducibility/Containerization
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GUI frontend to IPython: http://nwhitehead.github.io/pineapple/
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Stencila: interesting alternative to Jupyter notebooks and R markdown https://stenci.la/
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Creating reproducible workflows with R Markdown documents: https://jdblischak.github.io/workflowr/
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Building Pipelines
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SnakeMake
- SnakeChunks: components for SnakeMake https://github.com/SnakeChunks/SnakeChunks
- Create command line programs from SnakeMake workflows: https://github.com/nh13/snakeparse
- GUI: http://sequana.readthedocs.io/en/master/sequanix.html
- Status: Last push 2408 days ago (2019-09-07), 3 open issues
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Toil: http://toil.readthedocs.io/en/latest/installation.html
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Generate data type-specific compression formats: http://algorithms.cnag.cat/cargo/
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Pipe output of a shell command to a website (unfortunately can't be used in NIH HPC since nodes do not allow network connections): https://seashells.io/
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Genomics
Candidate Prioritization
- SnpNexus: http://snp-nexus.org/IW-Scoring/
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Databases
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Super-Enhancer Archive: http://www.bio-bigdata.com/SEA/
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GWAS database: http://jjwanglab.org/gwasdb
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rVarBase: regulatory features of human genetic variants http://rv.psych.ac.cn/
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BISQUE: convert between database identifiers http://bisque.yulab.org/
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Database of disease-associated methylation: http://202.97.205.78/diseasemeth/
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Human histone modifications: http://www.tongjidmb.com/human/index.html
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iRegNet3D: SNP-focused catalog of TF-TF, TF-DNA, and DNA-DNA interactions http://iregnet3d.yulab.org/index/
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Interactive multi-omics tissue assay database: https://ccb-web.cs.uni-saarland.de/imota/
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Database of genetic variant effects on gene expression: https://xhaubem01.u.hpc.mssm.edu/gwas2genes/
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PharmacoDB
- Search multiple cancer pharmacogenomic databases with a single query
- Software is GPL licensed; target databases have various licenses
- http://pharmacodb.pmgenomics.ca
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Database of druggable variant information (web only): http://depo-dinglab.ddns.net/
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Search publications and clinical trials by genes/variants/drugs https://vist.informatik.hu-berlin.de/
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Functional Enrichment/Ontology
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Variant Set
- VSE: https://cran.r-project.org/web/packages/VSE/vignettes/my-vignette.html
- Functional enrichment with LD correction
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MESH
- MeSH over-representation: http://www.bioconductor.org/packages/release/bioc/vignettes/meshr/inst/doc/MeSH.pdf
- meshes: https://guangchuangyu.github.io/meshes/
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Motif/TFBS
- Circular logos: http://bioinformaticstools.mayo.edu/circularlogo/index.html
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Network Analysis
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PAXToolsR: http://bioconductor.org/packages/release/bioc/html/paxtoolsr.html
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ancGWAS: post GWAS association with protein-protein interaction networks http://www.cbio.uct.ac.za/~emile/software.html
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Prediction
- Chromatin accessibility
- SCM: http://scm.csail.mit.edu/
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Sequence Analysis
Chromatin Interactions
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Model 3D chromosome structure from Hi-C contact maps + optional FISH constraints: https://github.com/yjzhang/FISH_MDS.jl, https://github.com/yjzhang/3DC-Browser
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Predicting TADs from histone modifications: https://cb.utdallas.edu/CITD/index.htm#ajax=home
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Footprinting
- NucID: nucleosome positioning from DNase-seq https://jianlingzhong.github.io/NucID/
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General-purpose
- k-mer hashing: https://github.com/czbiohub/kmer-hashing
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Methylation
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QC
- ME-plot: Error detection and correction in bisulfite-converted sequencing reads https://github.com/joshuabhk/methylsuite
- Correction for cell-type composition: http://www.cs.tau.ac.il/~heran/cozygene/software/refactor.html
- Status: Last push 3835 days ago (2015-10-11), 1 open issues
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Simulation
- Sherman: http://www.bioinformatics.babraham.ac.uk/projects/sherman/
- DNemulator uses a similar idea for simulating cytosine metylation depending on CG context and bisulfite converstion rates: http://cbrc3.cbrc.jp/~martin/dnemulator/
- WGBSsuite: includes a hierarchical HMM for read simulation: https://github.com/SystemsGeneticsSG/WGBSSuite/blob/master/simulate_WGBS.R
- Ideas about additional parameters to add http://www.genetics.org/content/genetics/early/2017/02/16/genetics.116.195008.full.pdf
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Peak-based
ChIP-seq
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Motif assessment: http://www.bioinf.ict.ru.ac.za/
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Web-based tool to compute enrichment at a variety of genomic features: http://liulab.dfci.harvard.edu/CEAS/
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QC https://bioconductor.org/packages/devel/bioc/html/ChIC.html
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QC
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DOGMA: Measure completeness of a transcriptome or proteome assembly https://ebbgit.uni-muenster.de/domainWorld/DOGMA/
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SamStat: http://samstat.sourceforge.net/
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RNA
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Annotations
- Reassembly and annotation of public data for multi-tissue transcriptome map: http://big.hanyang.ac.kr/CAFE
- Annotates transcripts with intron retention so they can be ignored (reduces assembly bias): https://github.com/Shao-Group/irtool
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Search
- BloomTree: http://www.cs.cmu.edu/∼ckingsf/software/bloomtree/
- SBTs https://github.com/medvedevgroup/bloomtree-allsome
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Single-cell
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Optimized references: https://www.thepoolab.org/resources
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Gene/Transcript counting
- Modified version of Kallisto: https://github.com/govinda-kamath/clustering_on_transcript_compatibility_counts
- DISCO: https://pbtech-vc.med.cornell.edu/git/mason-lab/disco/tree/master
- ESAT: http://garberlab.umassmed.edu/software/esat/
- Status: Last push 2700 days ago (2018-11-19), 0 open issues
Simulation
- Perturbation of genomic intervals http://bedshift.databio.org/en/latest/
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Variant annotation
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VCF visualization with Circos plot: http://legolas.ariel.ac.il/~tools/CircosVCF/
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Protein sequence and structure annotation for variants https://www.ebi.ac.uk/thornton-srv/databases/cgi-bin/DisaStr/GetPage.pl?varmap=TRUE
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Pairwise alignment
Algorithms
Semi-global
http://www.bioinf.uni-freiburg.de/Lehre/Courses/2013_SS/V_Bioinformatik_1/lecture4.pdf) is global alignment with an optional gap at the end(s).
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Promising methods without software implementation
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ABBA http://abba.systems-genetics.net
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MR_eQTL: https://github.com/PrincetonUniversity/MR_eQTL
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Publication/Archiving
CV
- Using RMarkdown: https://ropenscilabs.github.io/vitae/
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Code/Data sharing
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GitHub: https://github.com/blog/1986-announcing-git-large-file-storage-lfs
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OSF API: https://test-api.osf.io/v2/docs/
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ThinkLab: https://thinklab.com/
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QRI: https://qri.io/
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Writing
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Pandoc scholar: https://github.com/pandoc-scholar/pandoc-scholar
- Nice paper showing example of generating manuscripts for two different journals: https://peerj.com/preprints/2648.pdf
- Status: Last push 1170 days ago (2023-01-27), 9 open issues
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Editoria: https://editoria.pub/
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Recommend papers to cite based on your bibliography: http://labs.semanticscholar.org/citeomatic/
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Slideboards: Mashup of slides and FAQ to explain a publication http://slideboard.herokuapp.com/
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Statistics/Machine Learning
Data Sets
- https://medium.com/@olivercameron/20-weird-wonderful-datasets-for-machine-learning-c70fc89b73d5#.9e5byk1mo
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Deep Learning
- Platforms
- Aetros: http://aetros.com/
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Methods/algorithms
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Fast exact calculation of p-values in Friedman rank sum test: http://www.ru.nl/publish/pages/726696/friedmanrsd.zip
- The Friedman test is for testing whether any columns are consistently different from other columns in a matrix
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Forecasting from time-series data: https://facebookincubator.github.io/prophet/ (this is a retail-centric model from Facebook, but could be adapted to biological data)
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Python
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Tools for data mining, NLP, ML, network analysis: http://www.clips.ua.ac.be/pages/pattern
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scikit-learn-compatible package for graph statistics: https://graspy.neurodata.io/
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Web APIs
- Google Prediction: https://cloud.google.com/prediction
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Visualization
Javascript
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http://blog.webkid.io/javascript-chart-libraries/
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D3.js: https://pub.beakernotebook.com/#/publications/560c9f9b-14e6-4d95-8e78-cc0a60bf4e5a?fullscreen=false
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Circos for Javascript: http://bioinfo.ibp.ac.cn/biocircos/
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Dataviz components built on top of D3: http://nivo.rocks/?ref=producthunt#/components
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Muze: https://www.charts.com/muze
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R
Data Types
- Network visualization from R using vis.js: http://dataknowledge.github.io/visNetwork/
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ggplot2
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Gallery of extensions: http://www.ggplot2-exts.org/gallery/
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Color palattes
- Color scales with clustering (would want to adapt this to ggplot): https://github.com/schne
- ggSci: https://ggsci.net/
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ggrepel: displaying text labels with minimal overlapping https://github.com/slowkow/ggrepelrd/d3-scale-cluster
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Beeswarm: https://github.com/eclarke/ggbeeswarm: plot overlapping points without jitter
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Breve is a mac application that displays large tables in a way that makes it easy to identify patterns and missing data http://breve.designhumanities.org/
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Making colorblind-friendly figures: http://bconnelly.net/2013/10/creating-colorblind-friendly-figures/
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Feedback: http://helpmeviz.com/
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Circos-like visualization of chromosome structure with support for multiple data types https://rondo.ws
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VCF
- CircosVCF
- Visualization of variant calls from a VCF on a CIRCOS plot
- CircosVCF: http://legolas.ariel.ac.il/~tools/CircosVCF
- https://github.com/compbiocore/VariantVisualization.jl
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- CircosVCF