Software type
Purpose in project
Created by
Showing 9 of 9 results
Software
released
A custom software used for SNP selex.Software type: variant annotationSoftware
released
Codes to replicate the results and Figures of "Combining SNP-to-gene linking strategies to pinpoint disease genes and assess disease omnigenicity".Software type: variant annotationSoftware
released
Association testing and fine mapping: eQTL-Catalogue/qtlmap. eQTL-Catlogue/qtlmap is a bioinformatics analysis pipeline used for QTL Analysis.Software type: variant annotationSoftware
released
Long Ranger is a set of analysis pipelines that processes Chromium sequencing output to align reads and call and phase SNPs, indels, and structural variants. These pipelines combine Chromium-specific algorithms with widely used components such as BWA, FreSoftware type: aligner, variant annotationSoftware
released
The Genome Analysis Toolkit or GATK is a software package for analysis of high-throughput sequencing data, developed by the Data Science and Data Engineering group at the Broad Institute. The toolkit offers a wide variety of tools, with a primary focus onSoftware type: variant annotationSoftware
released
Identifies DNA features and regulatory elements in non-coding regions of the human genome. One can enter dbSNP IDs, BED files, VCF files, or GFF3 files. A score is returned assessing the evidence for regulatory potential. Clicking on the score reveals theSoftware type: database, variant annotationSoftware
released
The UES (Uncovering Enrichment through Simulation) algorithm was written to help interpret results from genome-wide association studies (GWAS) using publicly available datasets.Software type: variant annotationSoftware
released
Creates phased diploid genomes variants from a vcf file by integrating variants to a reference genome.Software type: variant annotation