SeqSQC

Deep learning-based variant caller

fast BAM/CRAM depth calculation for WGS, exome, or targeted sequencing.

DNA sequence analysis

Efficient foundation model and benchmark for multi-species genome understanding with context-aware nucleotide representations, improving upon DNABERT for diverse genomic task transfer learning (UIUC MAGICS Lab, 484+ stars)

karyoploteR creates karyotype plots of arbitrary genomes and offers a complete set of functions to plot arbitrary data on them. It mimicks many R base graphics functions coupling them with a coordinate change function automatically mapping the chromosome and data coordinates into the plot coordinates. In addition to the provided data plotting functions, it is easy to add new ones.

D-GENIES – for Dot plot large Genomes in an Interactive, Efficient and Simple way – is an online tool designed to compare two genomes. It supports large genome and you can interact with the dot plot to improve the visualization.