Tool Library list page for genomics topic with tag 'Rare diseases'
4 tools
Integrated structural variant prediction method that can discover, genotype and visualize deletions, tandem duplications, inversions and translocation
Bayesian genetic variant detector designed to find small polymorphisms, specifically SNPs, indels, multi-nucleotide polymorphisms, and complex events
Bayesian genetic variant detector designed to find small polymorphisms, specifically SNPs, indels, multi-nucleotide polymorphisms, and complex events
A pattern growth approach to detect break points of large deletions and medium sized insertions from paired end short reads.