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Software that analyzes lists of mutations discovered in DNA sequencing, to identify genes that were mutated more often than expected by chance given background mutation processes.
Web application tool developed to classify an amino acid substitution as disease-associated or neutral in human.
Evaluates disease-causing potential of sequence alterations.
Data analysis service to the study of missense mutations which relies on graph-based signatures.
Java program that predicts the impact of all possible amino acid substitutions on the function of the protein., THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 16,2025.
A web tool for genome-wide annotation of human SNPs.
A tool to predict changes in protein stability upon point mutations.
A freely available, web-based program that combines the biophysical characteristics of amino acids and protein multiple sequence alignments to predict where missense substitutions in genes of interest fall in a spectrum from enriched delterious to enriched neutral.
A software tool that identifies homozygous regions using deep sequence data.
Software that visualises sequence variant data from whole exome data, so that it is possible to identify autozygous regions in consanguineous individuals.
A software tool for finding significant tandem repeats using short reads.
An algorithm for de novo detection and alignment of repeats in sequences based on K-means algorithm.
Software for the Identification of Microsatellite Sequences from Paired-End Illumina High-Throughput DNA Sequence Data
A software tool for detection and characterization of micro- and minisatellites in DNA sequences.
Software tool that allows the identification and localization of perfect microsatellites as well as compound microsatellites which are interrupted by a certain number of bases.
Software for a novel method for finding medium sized indels from high throughput sequencing datasets.
A GLF-based variant caller for next-generation sequencing data.
Software that identifies and annotates mutations in next-generation sequencing projects.
A Bayesian genetic variant detector designed to find small polymorphisms, specifically SNPs, indels, MNPs, and complex events smaller than the length of a short-read sequencing alignment.
A computational tool for calculating probability of variants in family-based sequencing data.