Biocview "VariantDetection"

sandmanns/appreci8R

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

appreci8R

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

bioinf-jku/panelcn.mops

CNV detection tool for targeted NGS panel data

panelcn.mops

CNV detection tool for targeted NGS panel data

RVS

Computes estimates of the probability of related individuals sharing a rare variant

PureCN

Copy number calling and SNV classification using targeted short read sequencing

lima1/PureCN

Copy number calling and SNV classification using targeted short read sequencing

nikopech/lineagespot

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

gschofl/DR2S

Dual redundant reference sequencing

DKMS-LSL/dr2s

Dual redundant reference sequencing

db544/varmiss

Estimating missing mutations in cancer analyses

SICtools

Find SNV/Indel differences between two bam files with near relationship

transbioZI/Gimpute

Gimpute: An efficient genetic data processing and imputation pipeline

Rariant

Identification and Assessment of Single Nucleotide Variants through Shifts in Non-Consensus Base Call Frequencies

julian-gehring/Rariant

Identification and Assessment of Single Nucleotide Variants through Shifts in Non-Consensus Base Call Frequencies

broadinstitute/inferCNV

Infer Copy Number Variation from Single-Cell RNA-Seq Data

broadinstitute/infercnv

Infer Copy Number Variation from Single-Cell RNA-Seq Data

infercnv

Infer Copy Number Variation from Single-Cell RNA-Seq Data

Rsubread

Mapping, quantification and variant analysis of sequencing data

ykong2/MADSEQ

Mosaic Aneuploidy Detection and Quantification using Massive Parallel Sequencing Data

MADSEQ

Mosaic Aneuploidy Detection and Quantification using Massive Parallel Sequencing Data

MMAPPR2

Mutation Mapping Analysis Pipeline for Pooled RNA-Seq

jonathonthill/MMAPPR2

Mutation Mapping Analysis Pipeline for Pooled RNA-Seq

kjohnsen/MMAPPR2

Mutation Mapping Analysis Pipeline for Pooled RNA-Seq

PapenfussLab/svaRetro

Retrotransposed transcript detection from structural variants

PapenfussLab/RTDetect

Retrotransposed transcript detection from structural variants

CrispRVariants

Tools for counting and visualising mutations in a target location

markrobinsonuzh/CrispRVariants

Tools for counting and visualising mutations in a target location

HLindsay/CrispRVariants

Tools for counting and visualising mutations in a target location

daewoooo/SVbyEye

Visualization of genomic structural variants