Showing 4 of 4 results

• Software

  released

  Scalpel — source

  Scalpel is a software package for detecting INDELs (INsertions and DELetions) mutations in a reference genome which has been sequenced with next-generation sequencing technology (e.g., Illumina).

  Software type: variant annotation

• Software

  released

  GATK — source

  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 on

  Software type: variant annotation

• Software

  released

  UES (Uncovering Enrichment through Simulation) — source

  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 annotation

• Software

  released

  vcf2diploid — source

  Creates phased diploid genomes variants from a vcf file by integrating variants to a reference genome.

  Software type: variant annotation