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. 2021 Dec 4;141(9):1515–1528. doi: 10.1007/s00439-021-02402-z

Table 1.

List of machine learning software

Software name Machine type Software type Application Data type Website
SURF k-NN Part of open-source package Epistatic interactions SNP http://www.epistasis.org
STIR k-NN Standalone Program Epistatic interactions SNP http://insilico.utulsa.edu/software/STIR
ReliefSeq k-NN Standalone Program Epistatic interactions RNA-seq http://insilico.utulsa.edu/ReliefSeq.php
KNN-MDR k-NN Standalone program Epistatic interactions SNP n/a
GANN ANN Standalone program Gene-based expression association RNA-seq n/a
ANNI ANN Standalone program Epistatic interactions SNP n/a
ATHENA ANN Standalone program Epistatic interactions SNP https://ritchielab.org/software/athena-downloads
Basset Deep learning Standalone program Noncoding annotation DNA-seq https://github.com/davek44/Basset
DeepSEA Deep learning Standalone program Noncoding annotation DNA-seq http://deepsea.princeton.edu/
DeepWAS Deep learning Standalone program GWAS/annotation integration GWAS https://github.com/cellmapslab/DeepWAS
DFIM Deep learning Standalone program Epistatic interactions DNA-seq https://github.com/kundajelab/dfim
PrimateAI Deep learning Standalone program Variant pathogenicity DNA-seq https://basespace.illumina.com
CADD SVM Standalone program Variant pathogenicity DNA-seq https://cadd.gs.washington.edu
MSIpred SVM Python package Microsatellite instability prediction WES https://github.com/bioinfolabmu/MSIpred
REVEL RF Standalone program Variant pathogenicity DNA-seq https://sites.google.com/site/revelgenomics/
Random jungle RF R package GWAS SNP https://r-forge.r-project.org/R/?group_id=741
Ranger RF R package GWAS SNP https://cran.r-project.org/web/packages/ranger/index.html
Open target genetics RF Standalone program SNP/gene prioritization GWAS Results https://genetics.opentargets.org
Permuted RF RF Standalone program Epistatic interactions SNP n/a
RF fishing RF Standalone program Epistatic interactions SNP n/a
SWSFS RF Standalone program Epistatic interactions SNP n/a
r2VIM RF Standalone program Epistatic interactions SNP https://research.nhgri.nih.gov/software/r2VIM/
Boruta RF R package Epistatic interactions SNP https://cran.r-project.org/web/packages/Boruta/index.html
Vita RF R package Epistatic interactions SNP https://cran.r-project.org/web/packages/vita/index.html

A list of the software referenced in this review. The columns represent the software names, the type of machine used in the software, the type of software (i.e., whether the software is a stand-alone program or a package), the application for the software, the type of data the software analyzes (note that programs that use SNP data can also use DNA-seq), and the link to download the software (if available)