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Supplementary Table 3. Impact metrics of popular bioinformatics tools and resources. Only software that is being developed on GitHub, has over 50 stars, and published in peer-review journals was selected.

Name Description GitHub Stars Watchers Forks DOI Journal Year Altmetrics ImpactFactor CiteScore Citations
samtools Tools written in C using htslib for manipulating next-generation sequencing data https://github.com/samtools/samtools 679 110 366 10.1093/bioinformatics/btp352 Bioinformatics 2009 72.53 5.481 7.84 12191
bwa Burrow-Wheeler Aligner for short-read alignment see minimap2 for long-read alignment https://github.com/lh3/bwa 613 118 321 10.1093/bioinformatics/btp324 Bioinformatics 2009 43.358 5.481 7.84 11185
STAR RNA-seq aligner https://github.com/alexdobin/STAR 581 89 201 10.1093/bioinformatics/bts635 Bioinformatics 2012 95.74 5.481 7.84 3491
ranger A Fast Implementation of Random Forests https://github.com/imbs-hl/ranger 359 42 94 10.18637/jss.v077.i01 Journal of Statistical Software 2016 47.35 22.737 16.32 47
trinityrnaseq Trinity RNA-Seq de novo transcriptome assembly https://github.com/trinityrnaseq/trinityrnaseq 319 61 193 10.1038/nbt.1883 Nature Biotechnology 2011 40.096 35.724 12.94 5436
seurat R toolkit for single cell genomics https://github.com/satijalab/seurat 308 55 202 10.1038/nbt.4096 Nature Biotechnology 2018 318.54 35.724 12.94 56
MACS MACS – Model-based Analysis of ChIP-Seq https://github.com/taoliu/MACS 270 52 168 10.1186/gb-2008-9-9-r137 Genome Biology 2007 15 13.214 12.66 3219
canu A single molecule sequence assembler for genomes large and small https://github.com/marbl/canu 253 52 75 10.1101/gr.215087.116 Genome Research 2017 89.85 10.101 11.65 305
gemini a lightweight db framework for exploring genetic variation https://github.com/arq5x/gemini 235 46 107 10.1371/journal.pcbi.1003153 PLoS Computational Biology 2013 38.984 3.955 4.49 120
bowtie2 A fast and sensitive gapped read aligner https://github.com/BenLangmead/bowtie2 200 30 70 10.1038/nmeth.1923 Nature Methods 2012 77.088 26.919 13.07 8386
vcftools A set of tools written in Perl and C for working with VCF files such as those generated by the 1000 Genomes Project https://github.com/vcftools/vcftools 198 27 84 10.1093/bioinformatics/btr330 Bioinformatics 2011 30.08 5.481 7.84 1864
sga de novo sequence assembler using string graphs https://github.com/jts/sga 184 34 74 10.1101/gr.126953.111 Genome Research 2011 36.756 10.101 11.65 312
velvet Short read de novo assembler using de Bruijn graphs https://github.com/dzerbino/velvet 182 24 75 10.1371/journal.pone.0008407 PLoS ONE 2009 6.5 2.766 3.01 119
hisat2 Graph-based alignment Hierarchical Graph FM index https://github.com/infphilo/hisat2 182 40 56 10.1038/nmeth.3317 Nature Methods 2015 53.416 26.919 13.07 898
bcftools This is the official development repository for BCFtools To compile the develop branch of htslib is needed git clone –branchdevelop git//githubcom/samtools/htslibgit htslib https://github.com/samtools/bcftools 180 52 115 10.1093/bioinformatics/btw044 Bioinformatics 2016 8.25 5.481 7.84 28
cufflinks https://github.com/cole-trapnell-lab/cufflinks 174 41 94 10.1038/nbt.1621 Nature Biotechnology 2010 44.434 35.724 12.94 5203
vcfanno annotate a VCF with other VCFs/BEDs/tabixed files https://github.com/brentp/vcfanno 170 21 29 10.1186/s13059-016-0973-5 Genome Biology 2016 10.7 13.214 12.66 12
giggle Interval data structure https://github.com/ryanlayer/giggle 159 20 19 10.1038/nmeth.4556 Nature Methods 2018 102.35 26.919 13.07 2
Basset Convolutional neural network analysis for predicting DNA sequence activity https://github.com/davek44/Basset 156 22 63 10.1101/gr.200535.115 Genome Research 2016 50.43 10.101 11.65 95
lumpy-sv lumpy a general probabilistic framework for structural variant discovery https://github.com/arq5x/lumpy-sv 155 27 74 10.1186/gb-2014-15-6-r84 Genome Biology 2013 42.4 13.214 12.66 217
abyss microscope Assemble large genomes using short reads https://github.com/bcgsc/abyss 150 24 69 10.1093/bioinformatics/btp367 Bioinformatics 2009 3 5.481 7.84 242
ldsc LD Score Regression LDSC https://github.com/bulik/ldsc 147 23 81 10.1038/ng.3404 Nature Genetics 2015 52.31 27.125 21.12 243
mothur Welcome to the mothur project initiated by Dr Patrick Schloss and his software development team in the Department of Microbiology & Immunology at The University of Michigan This project seeks to develop a single piece of open-source expandable software to fill the bioinformatics needs of the microbial ecology community https://github.com/mothur/mothur 145 33 70 10.1128/aem.01541-09 Applied & Environmental Microbiology 2009 23.25 3.633 3.99 7535
delly DELLY2 Structural variant discovery by integrated paired-end and split-read analysis https://github.com/dellytools/delly 136 35 62 10.1093/bioinformatics/bts378 Bioinformatics 2012 23.5 5.481 7.84 381
qiime2 Official repository for the QIIME 2 framework https://github.com/qiime2/qiime2 122 35 82 10.1038/nmeth.f.303 Nature Methods 2010 44.208 26.919 13.07 9982
mummer Mummer alignment tool https://github.com/mummer4/mummer 121 22 34 10.1371/journal.pcbi.1005944 PLoS Computational Biology 2018 105.7 3.955 4.49 16
monocle-release https://github.com/cole-trapnell-lab/monocle-release 112 33 54 10.1038/nbt.2859 Nature Biotechnology 2014 78.296 35.724 12.94 501
HiC-Pro HiC-Pro An optimized and flexible pipeline for Hi-C data processing https://github.com/nservant/HiC-Pro 101 23 71 10.1186/s13059-015-0831-x Genome Biology 2015 10.8 13.214 12.66 88
clinvar This repo provides tools to convert ClinVar data into a tab-delimited flat file and also provides that resulting tab-delimited flat file https://github.com/macarthur-lab/clinvar 98 42 43 10.1093/nar/gkx1153 Nucleic Acids Research 2017 13.53 11.561 10.84 39
ballgown Bioconductor package ballgown devel version Isoform-level differential expression analysis in R https://github.com/alyssafrazee/ballgown 95 23 49 10.1038/nbt.3172 Nature Biotechnology 2015 47.508 35.724 12.94 67
DanQ A hybrid convolutional and recurrent neural network for predicting the function of DNA sequences https://github.com/uci-cbcl/DanQ 94 20 43 10.1093/nar/gkw226 Nucleic Acids Research 2016 3.25 11.561 10.84 52
stringtie Transcript assembly and quantification for RNA-Seq https://github.com/gpertea/stringtie 90 19 24 10.1038/nprot.2016.095 Nature Protocols 2016 81.946 12.423 10.98 208
scLVM scLVM is a modelling framework for single-cell RNA-seq data that can be used to dissect the observed heterogeneity into different sources thereby allowing for the correction of confounding sources of variation https://github.com/PMBio/scLVM 83 23 38 10.1038/nbt.3102 Nature Biotechnology 2015 172.016 35.724 12.94 326
CNVnator a tool for CNV discovery and genotyping from depth-of-coverage by mapped reads https://github.com/abyzovlab/CNVnator 76 12 33 10.1101/gr.114876.110 Genome Research 2011 27.836 10.101 11.65 429
SIMLR Implementations in both Matlab and R of the SIMLR method The manuscript of the method is available at https//wwwnaturecom/articles/nmeth4207 https://github.com/BatzoglouLabSU/SIMLR 65 18 36 10.1038/nmeth.4207 Nature Methods 2017 47.25 26.919 13.07 42
SnpEff https://github.com/pcingola/SnpEff 64 22 38 10.4161/fly.19695 Fly 2014 9.5 1.218 1.27 1785
Artemis Artemis is a free genome viewer and annotation tool that allows visualization of sequence features and the results of analyses within the context of the sequence and its six-frame translation https://github.com/sanger-pathogens/Artemis 63 13 33 10.1093/bioinformatics/btr703 Bioinformatics 2011 26.334 5.481 7.84 271
MAST Tools and methods for analysis of single cell assay data in R https://github.com/RGLab/MAST 62 9 28 10.1186/s13059-015-0844-5 Genome Biology 2015 48.806 13.214 12.66 126
ZIFA Zero-inflated dimensionality reduction algorithm for single-cell data https://github.com/epierson9/ZIFA 61 8 23 10.1186/s13059-015-0805-z Genome Biology 2015 41.676 13.214 12.66 95
svtyper Bayesian genotyper for structural variants https://github.com/hall-lab/svtyper 61 11 26 10.1038/nmeth.3505 Nature Methods 2015 152.438 26.919 13.07 58
deconstructSigs deconstructSigs https://github.com/raerose01/deconstructSigs 60 10 19 10.1186/s13059-016-0893-4 Genome Biology 2016 22.65 13.214 12.66 120
sciclone An R package for inferring the subclonal architecture of tumors https://github.com/genome/sciclone 59 48 35 10.1371/journal.pcbi.1003665 PLoS Computational Biology 2014 31.912 3.955 4.49 103
htseq HTSeq is a Python library to facilitate processing and analysis of data from high-throughput sequencing HTS experiments https://github.com/simon-anders/htseq 59 9 37 10.1093/bioinformatics/btu638 Bioinformatics 2014 55.346 5.481 7.84 3084
circlator A tool to circularize genome assemblies https://github.com/sanger-pathogens/circlator 58 17 20 10.1186/s13059-015-0849-0 Genome Biology 2015 50.358 13.214 12.66 116
clonevol Inferring and visualizing clonal evolution in multi-sample cancer sequencing https://github.com/hdng/clonevol 56 8 25 10.1093/annonc/mdx517 Annals of Oncology 2017 15.65 13.926 8.97 7
methylKit R package for DNA methylation analysis https://github.com/al2na/methylKit 55 15 64 10.1186/gb-2012-13-10-r87 Genome Biology 2011 23.35 13.214 12.66 283
PhenoGraph Subpopulation detection in high-dimensional single-cell data https://github.com/jacoblevine/PhenoGraph 53 7 25 10.1016/j.cell.2015.05.047 Cell 2015 32.588 31.398 21.99 217
TADbit TADbit is a complete Python library to deal with all steps to analyze model and explore 3C-based data With TADbit the user can map FASTQ files to obtain raw interaction binned matrices Hi-C like matrices normalize and correct interaction matrices identify and compare the so-called Topologically Associating Domains TADs build 3D models from the interaction matrices and finally extract structural properties from the models TADbit is complemented by TADkit for visualizing 3D models https://github.com/3DGenomes/TADbit 51 15 48 10.1371/journal.pcbi.1005665 PLoS Computational Biology 2017 18.4 3.955 4.49 22
weblogo WebLogo 3 Sequence Logos redrawn https://github.com/WebLogo/weblogo 51 10 20 10.1101/gr.849004 Genome Research 2004 9.5 10.101 11.65 4467
targetfinder https://github.com/shwhalen/targetfinder 50 10 15 10.1038/ng.3539 Nature Genetics 2016 194.74 27.125 21.12 79