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Topic: VariantAnnotation

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35 packages on Bioconductor, most distinct IPs first

VariantAnnotation in Topics

PackageMaintainerCategoryLatest versionDistinct IPs a monthNeeds
VariantAnnotation
Annotation of Genetic VariantsBioconductor Package Maintainer		Bioconductor Package Maintainersoftware28 Apr 20269,77176
maftools
Summarize, Analyze and Visualize MAF FilesAnand Mayakonda		Anand Mayakondasoftware28 Apr 20263,41926
Rsubread
Mapping, quantification and variant analysis of sequencing dataWei Shi		Wei Shisoftware28 Apr 20262,7228
PureCN
Copy number calling and SNV classification using targeted short read sequencingMarkus Riester		Markus Riestersoftware28 Apr 20261,083101
podkat
Position-Dependent Kernel Association TestUlrich Bodenhofer		Ulrich Bodenhofersoftware28 Apr 202694659
HelloRanges
Introduce *Ranges to bedtools usersMichael Lawrence		Michael Lawrencesoftware28 Apr 202678378
TVTB
TVTB: The VCF Tool BoxKevin Rue-Albrecht		Kevin Rue-Albrechtsoftware28 Apr 2026758159
StructuralVariantAnnotation
Variant annotations for structural variantsDaniel Cameron		Daniel Cameronsoftware28 Apr 202675890
PCAN
Phenotype Consensus ANalysis (PCAN)Matthew Page		Matthew Pagesoftware28 Apr 202672914
musicatk
Mutational Signature Comprehensive Analysis ToolkitJoshua D. Campbell		Joshua D. Campbellsoftware28 Apr 2026726275
appreci8R
appreci8R: an R/Bioconductor package for filtering SNVs and short indels with high sensitivity and high PPVSarah Sandmann		Sarah Sandmannsoftware28 Apr 2026706162
myvariant
Accesses MyVariant.info variant query and annotation servicesAdam Mark, Chunlei Wu		Adam Mark, Chunlei Wusoftware28 Apr 2026701123
seqCAT
High Throughput Sequencing Cell Authentication ToolkitErik Fasterius		Erik Fasteriussoftware28 Apr 202668099
cellbaseR
Querying annotation data from the high performance Cellbase webMohammed OE Abdallah		Mohammed OE Abdallahsoftware28 Apr 202666662
ProteoDisco
Generation of customized protein variant databases from genomic variants, splice-junctions and manual sequencesJob van Riet		Job van Rietsoftware28 Apr 202665899
VCFArray
Representing on-disk / remote VCF files as array-like objectsQian Liu		Qian Liusoftware28 Apr 202665781
svaRetro
Retrotransposed transcript detection from structural variantsRuining Dong		Ruining Dongsoftware28 Apr 202661991
SigsPack
Mutational Signature Estimation for Single SamplesFranziska Schumann		Franziska Schumannsoftware28 Apr 202661680
geneAttribution
Identification of candidate genes associated with genetic variationArthur Wuster		Arthur Wustersoftware28 Apr 202661076
katdetectr
Detection, Characterization and Visualization of Kataegis in Sequencing DataDaan Hazelaar		Daan Hazelaarsoftware28 Apr 2026582124
svaNUMT
NUMT detection from structural variant callsRuining Dong		Ruining Dongsoftware28 Apr 202658191
ipdDb
IPD IMGT/HLA and IPD KIR database for Homo sapiensSteffen Klasberg		Steffen Klasbergsoftware28 Apr 202657465
cageminer
Candidate Gene MinerFabrício Almeida-Silva		Fabrício Almeida-Silvasoftware28 Apr 2026573191
OutSplice
Comparison of Splicing Events between Tumor and Normal SamplesTheresa Guo		Theresa Guosoftware28 Apr 202656778
MouseFM
In-silico methods for genetic finemapping in inbred miceMatthias Munz		Matthias Munzsoftware28 Apr 202653281
AlphaMissenseR
Accessing AlphaMissense Data Resources in RMartin Morgan		Martin Morgansoftware10 Sep 202650459
tadar
Transcriptome Analysis of Differential Allelic RepresentationLachlan Baer		Lachlan Baersoftware28 Apr 2026501151
transmogR
Modify a set of reference sequences using a set of variantsStevie Pederson		Stevie Pedersonsoftware2 Jul 202647989
SNPediaR
Query data from SNPediaDavid Montaner		David Montanersoftware29 Apr 20264774
GIGSEA
Genotype Imputed Gene Set Enrichment AnalysisShijia Zhu		Shijia Zhusoftware28 Apr 202646611