QuadGT is a software package for calling single-nucleotide variants in four sequenced genomes: normal-tumor pairs coupled with parents. Genotypes are inferred using a joint model of parental variant frequencies, de novo germline mutations, and somatic mutations. The model quantifies the...
R2R is a simple to use package for very sensitive analysis of short read sequence data obtained by NextGen sequencing techniques. R2R was developed in conjunction with data obtained on the Illumina GA platforms. R2R is written in simple Perl script and runs equally well under MS Windows...
"RAST (Rapid Annotation using Subsystem Technology) is a fully-automated service for annotating complete or nearly complete bacterial and archaeal genomes. It provides high quality genome annotations for these genomes across the whole phylogenetic tree."
A simulation toolbox that will help us optimize the combination of different technologies to perform comparative genome re-sequencing, especially in reconstructing large structural variants (SVs).
Comprehensive analysis pipelines powered with unique mapping speed and sensitivity deliver deep genomic analysis in variant detection and metagenomic applications with Illumina, Ion Torrent, Complete Genomics and Roche 454 data sets.
标签：Exome and whole genome variant detection, Metagenomics, SNP discovery, InDel discovery
SCALCE (skeɪlz) is fast FASTQ compression utility that utilizes locally consistent parsing for better compression rate. It achieves around 2X more compression than gzip alone.
Scaffolded and Corrected Assembly of Roche 454 (SCARF) is a next-generation sequence assembly tool for evolutionary genomics that is designed especially for assembling 454 EST sequences against high-quality reference sequences from related species.
DNA sequence information underpins genetic research, enabling discoversies of important biological or medical benefit. Compared with previous discovery strategies, a whole-genome sequencing study is no longer constrained by differing patterns of linkage disequilibrium, thus, in theory, ...