We support boolean queries, use +,-,<,>,~,* to alter the weighting of terms
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.
A comprehensive SNP and indel imputability database.
A collaborative project to better understand the relationship between genotype and phenotype in humans that connects human phenotype and clinical data in various locus-specific mutation databases (LSDBs) with data on genome sequences, evolutionary history, and function in the UCSC Genome Browser. PhenCode is a collaboration among researchers at Penn State, UC Santa Cruz, and locus experts at other institutions.
Project focused on understanding the contribution of rare genetic variation to heart, lung and blood disorders through the sequencing of well-phenotyped populations.
392 phylogeny software packages and 54 free web servers describing all known software for inferring phylogenies (evolutionary trees). Submissions are welcome. Programs are listed by methods available, by computer systems on which they work, cross-referenced by method and by computer system, by ones which analyze particular kinds of data, to show the most recent listings, or to show ones most recently changed.
A software tool for visualizing phenotypic and genotypic data for related individuals linked in pedigrees.
Software providing a method that estimates the probability of sharing alleles identity by descent (IBD) across the genome and can also be used for mapping disease loci using distantly related individuals.
Software that identifies short identity by descent (IBD) segments that are tagged by rare variants in large sequencing data.
Software that provides a method to infer the haplotype using haplotype reference panel and high throughput sequencing data.
A max-cut based algorithm for haplotype assembly using sequence reads from the two chromosomes of an individual.
A software tool for imputation of unobserved genotypes using a set of reference haplotype panel at a higher-density SNP set such as HapMap, and lower-density genotypes of a target individual using such as genotyping arrays.
A fully automated software tool which is available for Linux to investigate associations between a diplotype group and a phenotype in linear or logistic regression.
A method to transform Functional Impact scores taking into account the differences in basal tolerance to germline SNVs of genes that belong to different functional classes.