Awesome-Bioinformatics

Bioinformatics toolkit

A curated list of software tools and resources for bioinformatics analysis and computational biology

A curated list of awesome Bioinformatics libraries and software.

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Awesome Bioinformatics / Data Tools / Downloading

webGo Get Data; A command line interface for obtaining genomic data. [ ]
webEasily get SRA download links and other information. [ ]

Awesome Bioinformatics / Data Tools / Compressing

webA compressor of common genomic file formats (BAM, CRAM, FASTQ, VCF etc). [ | ]

Awesome Bioinformatics / Data Processing / Command Line Utilities

webModular and universal bioinformatics, Bionode provides pipeable UNIX command line tools and JavaScript APIs for bioinformatics analysis workflows. [ ]
paper-2018Syntax Highlighting for Computational Biology file formats (SAM, VCF, GTF, FASTA, PDB, etc...) in vim/less/gedit/sublime. [ | ]
webUtilities for working with CSV/Tab-delimited files. [ ]
webAnother cross-platform, efficient, practical and pretty CSV/TSV toolkit. [ ]
webData transformations and statistics. [ ]
HereGeneral parallelizer that runs jobs in parallel on a single multi-core machine. are some example scripts using GNU Parallel. [ ]
paper-2011Table file index. [ ]

Awesome Bioinformatics / Next Generation Sequencing / Workflow Managers

paper-2014A cross-system scripting language for working with big data pipelines in computer systems of different sizes and capabilities. [ | ]
webA small language for defining pipeline stages and linking them together to make pipelines. [ ]
weba specification for describing analysis workflows and tools that are portable and scalable across a variety of software and hardware environments, from workstations to cluster, cloud, and high performance computing (HPC) environments. [ ]
webA Workflow Management System geared towards scientific workflows. [ ]
paper-2018a popular open-source, web-based platform for data intensive biomedical research. Has several features, from data analysis to workflow management to visualization tools. [ | ]
paper-2018A fluent DSL modelled around the UNIX pipe concept, that simplifies writing parallel and scalable pipelines in a portable manner. [ | ]
paper-2010Computation Pipeline library for python widely used in science and bioinformatics. [ | ]
paper-2019Workflow library embedded in the Go programming language, focusing on supporting complex workflow constructs, compiling to a single binary, providing powerful file naming and comprehensive audit reports for every output [ | ]
paper-2010Hadoop Oozie-based workflow system focused on genomics data analysis in cloud environments. [ | ]
paper-2018A workflow management system in Python that aims to reduce the complexity of creating workflows by providing a fast and comfortable execution environment. [ | ]
webWorkflow standard developed by the Broad. [ ]

Awesome Bioinformatics / Next Generation Sequencing / Pipelines

webA flexible pipeline, built with Nextflow, for the complete analysis of bacterial genomes. [ ]
webA generic but comprehensive bacterial annotation pipeline, built with Nextflow, with nice graphical options for investigating results. [ ]
webBatteries included genomic analysis pipeline for variant and RNA-Seq analysis, structural variant calling, annotation, and prediction. [ ]
webCustomizable pipeline for differential expression analysis with an intuitive GUI. [ ]
webA pipeline for preprocessing short and long sequencing reads, built with Nextflow. [ ]

Awesome Bioinformatics / Next Generation Sequencing / Sequence Processing

paper-2017Automatic Filtering, Trimming, Error Removing and Quality Control for fastq data. [ ]
webA quality control tool for high throughput sequence data. [ ]
webFASTQ/A short-reads pre-processing tools: Demultiplexing, trimming, clipping, quality filtering, and masking utilities. [ ]
paper-2016Aggregate results from bioinformatics analyses across many samples into a single report. [ | ]
paper-2021Sequence manipulation toolkit for FASTA/FASTQ files written in Nim. [ | ]
paper-2016A cross-platform and ultrafast toolkit for FASTA/Q file manipulation in Golang. [ | ]
webfile format conversion in Biopython in a convenient way. [ ]

Awesome Bioinformatics / Next Generation Sequencing / Data Analysis

paper-2018Scalable gVCF merging and joint variant calling for population sequencing projects. [ ]

Awesome Bioinformatics / Next Generation Sequencing / Sequence Alignment

paper-2012An ultrafast and memory-efficient tool for aligning sequencing reads to long reference sequences. [ | ]
paper-2020the wavefront alignment algorithm (WFA) which expoit sequence similarity to speed up alignment [ ]
paper-2016SIMD C library for global, semi-global, and local pairwise sequence alignments [ ]
paper-1999A system for rapidly aligning entire genomes, whether in complete or draft form. [ | | | ]
paper-2021An ultrafast protein aligner for and like searches. [ ]
paper-2002Partial-Order Alignment for fast alignment and consensus of multiple homologous sequences. [ ]
paper-2017Ultra-fast, sensitive search and clustering suite for protein and nucleotide sequence sets. [ | ]

Awesome Bioinformatics / Next Generation Sequencing / Quantification

paper-2010Cufflinks assembles transcripts, estimates their abundances, and tests for differential expression and regulation in RNA-Seq samples. [ ]
paper-2011A software package for estimating gene and isoform expression levels from RNA-Seq data. [ | ]

Awesome Bioinformatics / Next Generation Sequencing / Variant Calling

paper-2018Deep learning-based variant caller [ ]
webBayesian haplotype-based polymorphism discovery and genotyping. [ ]
webVariant Discovery in High-Throughput Sequencing Data. [ ]
paper-2021A polymorphic bayesian genotyping model with wide applicability. [ ]
paper-2009samtools/bcftools are a suite of tools for manipulating NGS data and can be used to call variants. [ | ]
paper-2012Structural variant discovery by integrated paired-end and split-read analysis. [ ]
paper-2014lumpy: a general probabilistic framework for structural variant discovery. [ ]
paper-2015Structural variant and indel caller for mapped sequencing data. [ ]
paper-2017GRIDSS: the Genomic Rearrangement IDentification Software Suite. [ ]

Awesome Bioinformatics / Next Generation Sequencing / BAM File Utilities

paper-2011Collection of tools for working with BAM files. [ ]
paper-2017fast BAM/CRAM depth calculation for WGS, exome, or targeted sequencing. [ ]
paper-2010Displaying sequence statistics for next-generation sequencing. [ | ]
paper-2020Fast sample-swap and relatedness checks on BAMs/CRAMs/VCFs/GVCFs. [ ]
paper-2014Telseq is a tool for estimating telomere length from whole genome sequence data. [ ]

Awesome Bioinformatics / Next Generation Sequencing / VCF File Utilities

paper-2016Set of tools for manipulating VCF files. [ | | ]
paper-2016Annotate a VCF with other VCFs/BEDs/tabixed files. [ ]
paper-2011VCF manipulation and statistics (e.g. linkage disequilibrium, allele frequency, Fst). [ ]

Awesome Bioinformatics / Next Generation Sequencing / GFF BED File Utilities

webSuite of tools to handle gene annotations in any GTF/GFF format. [ ]
web- GFF and GTF file manipulation and interconversion. [ ]
paper-2012The fast, highly scalable and easily-parallelizable genome analysis toolkit. [ ]
paper-2010A Swiss Army knife for genome arithmetic. [ | | ]

Awesome Bioinformatics / Next Generation Sequencing / Variant Simulation

webTools for adding mutations to existing files, used for testing mutation callers. [ ]
web- Reads simulator. [ ]

Awesome Bioinformatics / Next Generation Sequencing / Variant Prediction/Annotation

paper-2003Predicts whether an amino acid substitution affects protein function. [ | ]
paper-2012Genetic variant annotation and effect prediction toolbox. [ | ]
paper-2016The VEP determines the effect of your variants (SNPs, insertions, deletions, CNVs or structural variants) on genes, transcripts, and protein sequence, as well as regulatory regions. [ | ]

Awesome Bioinformatics / Next Generation Sequencing / Python Modules

paper-2013Pythonic access to the UCSC Genome database. [ ]
webPythonic Access to the Ensembl database. [ ]
paper-2013Access to Biological Web Services from Python. [ | ]
pyVCF407about 3 years agoA port of using Cython for speed
paper-2017Cython + HTSlib == fast VCF parsing; even faster parsing than pyVCF. [ | ]
bedtools140over 5 years agoPython wrapper for . [ | ]
samtools1,643almost 2 years agoPython wrapper for . [ ]
webA VCF Parser for Python. [ ]

Awesome Bioinformatics / Visualization / Genome Browsers / Gene Diagrams

paper-2018Easy-to-use DNA sequence visualization tool that turns FASTA files into browser-based visualizations. [ | ]
paper-2011Embeddable genome viewer. Integration data from a wide variety of sources, and can load data directly from popular genomics file formats including bigWig, BAM, and VCF. [ | ]
paper-2014BioJS is a library of over hundred JavaScript components enabling you to visualize and process data using current web technologies. [ | ]
paper-2014Flexible circular visualization of genome-associated data with BioPerl and SVG. [ ]
paper-2016Horizon chart D3-based JavaScript library for DNA data. [ | ]
paper-2019Java-based browser. Fast, efficient, scalable visualization tool for genomics data and annotations. Handles a large variety of formats. [ | ]
paper-2015D3 JavaScript based genome viewer. Constructs SVGs. [ ]
paper-2016JavaScript genome browser that is highly customizable via plugins and track customizations. [ | ]
paper-2018Point and click, cross platform suite for analysing and visualizing next-generation sequencing datasets. [ | ]
paper-2016JavaScript library that can be used to generate interactive and highly customizable web-based genome browsers. [ ]
paper-2012JavaScript library for drawing canvas-based gene diagrams. [ | ]
webA modern sequence alignment viewer. [ ]
paper-2009Perl package for circular plots, which are well suited for genomic rearrangements. [ | ]
paper-2015An interactive web-based service of Circos. [ ]
paper-2014R package for circular plots for omics data. [ | ]
paper-2014A Java application for doing interactive work with circos plots. [ | ]
paper-2013R package for circular plots. [ | ]
paper-2018A circos representation of multiple GWAS results. [ ]

Awesome Bioinformatics / Database Access

Entrez Direct: E-utilities on the UNIX command lineUNIX command line tools to access NCBI's databases programmatically. Instructions to install and examples are found in the link

Awesome Bioinformatics / Resources / Becoming a Bioinformatician

What is a bioinformatician
Bioinformatics Curriculum Guidelines: Toward a Definition of Core Competencies
Top N Reasons To Do A Ph.D. or Post-Doc in Bioinformatics/Computational Biology
A 10-Step Guide to Party Conversation For BioinformaticiansHere is a step-by-step guide on how to convey concepts to people not involved in the field when asked the question: 'So, what do you do?'
A History Of Bioinformatics (In The Year 2039)A talk by C. Titus Brown on his take of looking back at bioinformatics from the year 2039. His notes for this talk can be found
A farewell to bioinformaticsA critical view of the state of bioinformatics
A Series of Interviews with Notable BioinformaticiansDr. Keith Bradnam "thought it might be instructive to ask a simple series of questions to a bunch of notable bioinformaticians to assess their feelings on the current state of bioinformatics research, and maybe get any tips they have about what has been useful to their bioinformatics careers."
Open Source Society University on Bioinformatics5,587over 2 years agoSolid path for those of you who want to complete a Bioinformatics course on your own time, for free, with courses from the best universities in the World
RosalindRosalind is a platform for learning bioinformatics through problem solving
A guide for the lonely bioinformaticianThis guide is aimed at bioinformaticians, and is meant to guide them towards better career development
A brief history of bioinformatics

Awesome Bioinformatics / Resources / Bioinformatics on GitHub

Awesome-alternative-splicing51over 8 years agoList of resources on alternative splicing including software, databases, and other tools
Awesome AI-based Protein Design234over 2 years agoA collection of research papers for AI-based protein design

Awesome Bioinformatics / Resources / Sequencing

Next-Generation Sequencing Technologies - Elaine Mardis (2014)[1:34:35] - Excellent (technical) overview of next-generation and third-generation sequencing technologies, along with some applications in cancer research
Annotated bibliography of *Seq assaysList of ~100 papers on various sequencing technologies and assays ranging from transcription to transposable element discovery
For all you seq... (PDF)(3456x5471) - Massive infographic by Illumina on illustrating how many sequencing techniques work. Techniques cover protein-protein interactions, RNA transcription, RNA-protein interactions, RNA low-level detection, RNA modifications, RNA structure, DNA rearrangements and markers, DNA low-level detection, epigenetics, and DNA-protein interactions. References included

Awesome Bioinformatics / Resources / RNA-Seq

Review papers on RNA-seq (Biostars)Includes lots of seminal papers on RNA-seq and analysis methods
Informatics for RNA-seq: A web resource for analysis on the cloud1,345over 3 years agoEducational resource on performing RNA-seq analysis in the cloud using Amazon AWS cloud services. Topics include preparing the data, preprocessing, differential expression, isoform discovery, data visualization, and interpretation
RNA-seqlopediaRNA-seqlopedia provides an awesome overview of RNA-seq and of the choices necessary to carry out a successful RNA-seq experiment
A survey of best practices for RNA-seq data analysisGives awesome roadmap for RNA-seq computational analyses, including challenges/obstacles and things to look out for, but also how you might integrate RNA-seq data with other data types
Stories from the Supplement[46:39] - Dr. Lior Pachter shares his stories from the supplement for well-known RNA-seq analysis software CuffDiff and and explains some of their methodologies
List of RNA-seq Bioinformatics ToolsExtensive list on Wikipedia of RNA-seq bioinformatics tools needed in analysis, ranging from all parts of an analysis pipeline from quality control, alignment, splice analysis, and visualizations
RNA-seq Analysis951almost 5 years ago's notes on various steps and considerations when doing RNA-seq analysis

Awesome Bioinformatics / Resources / ChIP-Seq

ChIP-seq analysis notes from Tommy Tang755about 2 years agoResources on ChIP-seq data which include papers, methods, links to software, and analysis

Awesome Bioinformatics / Resources / YouTube Channels and Playlists

Current Topics in Genome Analysis 2016Excellent series of fourteen lectures given at NIH about current topics in genomics ranging from sequence analysis, to sequencing technologies, and even more translational topics such as genomic medicine
GenomeTV"GenomeTV is NHGRI's collection of official video resources from lectures, to news documentaries, to full video collections of meetings that tackle the research, issues and clinical applications of genomic research."
Leading StrandKeynote lectures from Cold Spring Harbor Laboratory (CSHL) Meetings. More on
Genomics, Big Data and Medicine Seminar Series"Our seminars are dedicated to the critical intersection of GBM, delving into 'bleeding edge' technology and approaches that will deeply shape the future."
Rafael Irizarry's ChannelDr. Rafael Irizarry's lectures and academic talks on statistics for genomics
NIH VideoCasting and Podcasting"NIH VideoCast broadcasts seminars, conferences and meetings live to a world-wide audience over the Internet as a real-time streaming video." Not exclusively genomics and bioinformatics video but many great talks on domain specific use of bioinformatics and genomics

Awesome Bioinformatics / Resources / Blogs

ACGTDr. Keith Bradnam writes about this "thoughts on biology, genomics, and the ongoing threat to humanity from the bogus use of bioinformatics acroynums."
OpiniomicsDr. Mick Watson write on bioinformatics, genomes, and biology
Bits of DNADr. Lior Pachter writes review and commentary on computational biology
it is NOT junkDr. Michael Eisen writes "a blog about genomes, DNA, evolution, open science, baseball and other important things"
#!/perl/bioinfoThe Computational and Structural Biology group at EEAD-CSIC writes, in Spanish and English, about ideas and code for plant genomics, computational and structural biology problems

Awesome Bioinformatics / Resources / Miscellaneous

The Leek group guide to genomics papers473almost 8 years agoExpertly curated genomics papers to get up to speed on genomics, RNA-seq, statistics (used in genomics), software development, and more
A New Online Computational Biology Curriculum"This article introduces a catalog of several hundred free video courses of potential interest to those wishing to expand their knowledge of bioinformatics and computational biology. The courses are organized into eleven subject areas modeled on university departments and are accompanied by commentary and career advice."
How Perl Saved the Human Genome ProjectAn anecdote by Lincoln D. Stein on the importance of the Perl programming language in the Human Genome Project
Educational Papers from Nature Biotechnology and PLoS Computational BiologyPage of links to primers and short educational articles on various methods used in computational biology and bioinformatics
The PeerJ Bioinformatics Software Tools CollectionCollection of tools curated by Keith Crandall and Claus White, aimed at collating the most interesting, innovative, and relevant bioinformatics tools articles in PeerJ

Awesome Bioinformatics / Online networking groups

Bioinformatics (on Discord)a Discord server for general bioinformatics
r-bioinformaticsthe official Slack workspace of r/bioinformatics ( )
BioinformaticsGRXA community of bioinformaticians based in Granada, Spain
Comunidad de Desarolladores de Software en BioinformáticaA community of bioinformaticians centered in Latin America
COMBINEAn Austrialian group for bioinformatics students

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