Bioconductor Packages

Accessing AlphaMissense Data Resources in R

Introduce *Ranges to bedtools users

In-silico methods for genetic finemapping in inbred mice

Comparison of Splicing Events between Tumor and Normal Samples

Phenotype Consensus ANalysis (PCAN)

Generation of customized protein variant databases from genomic variants, splice-junctions and manual sequences

Copy number calling and SNV classification using targeted short read sequencing

Simulation of Rare Variant Genetic Data

The subREgion-based BurdEn Test (REBET)

Mapping, quantification and variant analysis of sequencing data

Query data from SNPedia

Mutational Signature Estimation for Single Samples

Variant annotations for structural variants

TVTB: The VCF Tool Box

Representing on-disk / remote VCF files as array-like objects

Annotation of Genetic Variants

appreci8R: an R/Bioconductor package for filtering SNVs and short indels with high sensitivity and high PPV

Candidate Gene Miner

Querying annotation data from the high performance Cellbase web

Identification of candidate genes associated with genetic variation

IPD IMGT/HLA and IPD KIR database for Homo sapiens

Detection, Characterization and Visualization of Kataegis in Sequencing Data

Detection of SARS-CoV-2 lineages in wastewater samples using next-generation sequencing

Summarize, Analyze and Visualize MAF Files

Mutational Signature Comprehensive Analysis Toolkit

Accesses MyVariant.info variant query and annotation services

Parental Allele Transmission Inference for Trio Genotype Data

Position-Dependent Kernel Association Test

R interface to the IGVF Catalog

High Throughput Sequencing Cell Authentication Toolkit

NUMT detection from structural variant calls

Retrotransposed transcript detection from structural variants

Transcriptome Analysis of Differential Allelic Representation

Modify a set of reference sequences using a set of variants