Computational Genomics Tools

ANNOgesic is the swiss army knife for RNA-Seq based annotation of bacterial/archaeal genomes. It is a modular, command-line tool that can integrate different types of RNA-Seq data based on dRNA-Seq (differential RNA-Seq) or RNA-Seq protocols that inclusde transcript fragmentation to generate high quality genome annotations. It can detect genes, CDSs/tRNAs/rRNAs, transcription starting sites (TSS) and processing sites, transcripts, terminators, untranslated regions (UTR) as well as small RNAs (sRNA), small open reading frames (sORF), circular RNAs, CRISPR related RNAs, riboswitches and RNA-thermometers. It can also perform RNA-RNA and protein-protein interactions prediction.

Somatic copy number analysis using WGS paired end wholegenome sequencing

ASGAL (Alternative Splicing Graph ALigner) is a tool for detecting the alternative splicing events expressed in a RNA-Seq sample with respect to a gene annotation. The main idea behind ASGAL is the following one: the alternative splicing events can be detected by aligning the RNA-Seq reads against the splicing graph of the gene.

Sequential regulatory activity predictions with deep convolutional neural networks.

A genome assembler that reduces the computational time of human genome assembly from 400,000 CPU hours to 2,000 CPU hours, utilizing long erroneous 3GS sequencing reads and short accurate NGS sequencing reads.

DeepConsensus uses gap-aware sequence transformers to correct errors in Pacific Biosciences (PacBio) Circular Consensus Sequencing (CCS) data. This results in greater yield of high-quality reads.

Delly is an integrated structural variant (SV) prediction method that can discover, genotype and visualize deletions, tandem duplications, inversions and translocations at single-nucleotide resolution in short-read and long-read massively parallel sequencing data. It uses paired-ends, split-reads and read-depth to sensitively and accurately delineate genomic rearrangements throughout the genome.

Dnaapler is a simple tool that reorients complete circular microbial genomes.

dnaio is a Python 3 library for very efficient parsing and writing of FASTQ and also FASTA files.

Assemble bacterial isolate genomes from Nanopore reads. Dragonflye is a pipeline that aims to make assembling Oxford Nanopore reads quick and easy.