Biocview "VariantAnnotation"

Accesses MyVariant.info variant query and annotation services

Annotation of Genetic Variants

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

Bioconductor Tools for Human Mitochondrial Variant Analysis

BioThings Client (https://github.com/biothings/BioThingsClient.R)

Calculate overlaps and enrichment between genomic variants and genomic features or segmentations

Candidate Gene Miner

Copy number calling and SNV classification using targeted short read sequencing

Detection, Characterization and Visualization of Kataegis in Sequencing Data

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

Dual redundant reference sequencing

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

Genotype Imputed Gene Set Enrichment Analysis

High Throughput Sequencing Cell Authentication Toolkit

Identification of candidate genes associated with genetic variation

In-silico methods for genetic finemapping in inbred mice

Integrative analyses of CNV segmentation and SV variant calls

Introduce *Ranges to bedtools users

IPD IMGT/HLA and IPD KIR database for Homo sapiens

Mapping, quantification and variant analysis of sequencing data

methometR: Extracting methylation information from Optical Genome Maps

Mutational Signature Comprehensive Analysis Toolkit

nanotatoR: next generation structural variant annotation and classification

Next generation structural variant annotation and classification

Phenotype Consensus ANalysis (PCAN)

Position-Dependent Kernel Association Test

QA/QC of a gVCF or VCF file

Query data from SNPedia

Querying annotation data from the high performance Cellbase web

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

Retrotransposed transcript detection from structural variants

R Interface to Ensembl Variant Effect Predictor

simple interfaces from OpenCRAVAT to Bioconductor

Simulation of Rare Variant Genetic Data

Summarize, Analyze and Visualize MAF Files

svpluscnv: analysis and visualization of complex structural variation data

The subREgion-based BurdEn Test (REBET)

TVTB: The VCF Tool Box

Variant annotations for structural variants