smoove
github.com/brentp/smoovestructural variant calling and genotyping with existing tools, but,smoothly.
Sourced from
- GitHub — github.com/brentp/smoove
- Awesome Bioinformatics — github.com/brentp/smoove
Related resources
Structural variant discovery by integrated paired-end and split-read analysis.
Structural variant and indel caller for mapped sequencing data.
URGI (Unit Resources Genomics-Info) is a bioinformatics facility who support various research activities on plants of agronomic and forestry interest for INRAE. The platform has federated with 3 other INRAE bioinformatics platforms to form the BioinfOmics research infrastructure. It is part of the French Institute of Bioinformatics which is the French node of the European infrastructure ELIXIR . URGI is part of the Saclay Plant Science network and of the Graduate School Biosphera . URGI is labeled by GIS IBiSA and is ISO-9001 certified.
Freely available tools for biological computing in Python, with included cookbook, packaging and thorough documentation. Part of the [Open Bioinformatics Foundation](http://open-bio.org/). Contains the very useful [Entrez](https://biopython.org/DIST/docs/api/Bio.Entrez-module.html) package for API access to the NCBI databases.
Deep learning-based variant caller
Minimap2 is an pairwise aligner for genomic and spliced nucleotide sequences. It can perform the assembly-to-assembly alignment, and works with gzip'd FASTQ, FASTA formats. It also finds overlaps between long-reads.