We support boolean queries, use +,-,<,>,~,* to alter the weighting of terms
A method for CNV detection that supplements the depth-of-coverage with paired-end mapping information, where matepairs mapping discordantly to the reference serve to indicate the presence of variation.
Identifies high quality CNVs based on the density of homozygous SNPs and the ratio of heterozygous SNP reads.
A program to detect copy number variants from short read sequence data.
A novel framework for the identification of CNA events that uses flowcell-to-flowcell variability to estimate the false positive rate and the depth of coverage to finalize copy number calls.
A Bioconductor package to estimate Copy Number Aberrations (CNA) in cancer samples.
A statistical method to detect CNV and LOH using depth-of-coverage and B-allele frequencies from mapped short sequence reads in exome sequencing data.
A tool for copy number variation (CNV) detection for targeted resequencing data such as those from whole-exome capture data.
A graphical, event-driven tool for CNA/AI-coupled analysis of exome sequencing reads.
Software application for the isolation and the type prediction of intra- and inter-chromosomal rearrangements from paired-end/mate-pair sequencing data provided by the high-throughput sequencing technologies. This tool aims to identify structural variations with both clustering and sliding-window strategies, and helping in their visualization at the genome scale. It is compatible with SOLiD and Illumina (>=1.3) reads.
Lille 2 University of Health and Law is located in Lille, Nord-Pas-de-Calais, France. University was established in 1562. It is accredited by Ministère de l'Enseignement supérieur et de la Recherche, France.
A computational pipeline for finding mutations relative to a reference sequence in short-read DNA re-sequencing data intended for haploid microbial genomes.
A complete whole-exome sequencing pipeline and provides easy access through interface to intermediate and final results.
THIS RESOURCE IS NO LONGER IN SERVICE. Documented on May 18,2023. Targeted RE-sequencing Annotation Tool that offers a comprehensive, open framework, end-to-end solution for analyzing and interpreting targeted re-sequencing data., THIS RESOURCE IS NO LONGER IN SERVICE. Documented on September 16,2025.
Cloud-enabled pipeline for the comprehensive analysis of exome sequencing data.
A Toolkit for analyzing next-generation DNA Re-Sequencing data.
The product line encompasses distinct products for the specific needs of clinical research, saving time and money while allowing customers to focus on the answers they need most.
It streamlines the next generation sequencing data analysis using BFAST for aligner, SAMTOOLS for SNP caller, and ANNOVAR for annotation.
An automated pipeline for detecting genetic variants from High-throUghput GEnome SEQuencing.
An integrated software solution for the analysis of DNA-Seq data from commonly used NGS equipments such as Roche/454, Illumina and Ion Torrent.
Analysis Workflow and Quality Metric Management for DNA-Seq Experiments.