🧷 Best AI tools for Sequencing & variant calling (2026)

Basecallers, long-read and short-read variant callers, polishing and modified-base detection.

9 tools · 9 open source · each entry links to its website, code and paper.

Dated by release date, else first public paper, preprint or release date; undated tools listed after, A–Z.

Dorado

Oxford Nanopore's production basecaller: transformer/LSTM models turning raw nanopore signal into reads, with modified-base calling and duplex.

Sequencing & variant callingOpen source#basecalling#nanopore

Sniffles2

Fast structural-variant caller for long reads with population-scale and mosaic SV detection.

Sequencing & variant callingOpen source#structural-variants#long-read

Transformer that corrects PacBio HiFi consensus reads, increasing yield and accuracy.

Sequencing & variant callingOpen source#pacbio#hifi

Remora

Models for detecting modified bases (e.g. 5mC, 6mA) from nanopore signal.

Sequencing & variant callingOpen source#methylation#nanopore

Clair3

Deep-learning germline small-variant caller for long reads (ONT, PacBio) and short reads.

Sequencing & variant callingOpen source#variant-calling#long-read

Haplotype-aware variant calling pipeline for nanopore reads combining PEPPER, Margin and DeepVariant.

Sequencing & variant callingOpen source#variant-calling#nanopore

Bonito

Oxford Nanopore's research basecaller for training and testing new basecalling models.

Sequencing & variant callingOpen source#basecalling#nanopore

Medaka

Neural-network consensus polishing and variant calling for nanopore assemblies.

Sequencing & variant callingOpen source#polishing#nanopore

DeepVariant

Google deep learning variant caller for Illumina, PacBio HiFi and ONT data.

Sequencing & variant callingOpen source#variant-calling#long-read