Overview

Geneticist Assistant® NGS Interpretative Workbench is a comprehensive tool designed to manage, control, visualize, and interpret next-generation sequencing (NGS) data. Developed in collaboration with the Laboratory Medicine, Information Technology, and Health Science Research departments of Mayo Clinic, this software is tailored to identify pathogenic variants in whole exome data and specific gene panels. It is compatible with data from all leading NGS platforms, including Ion Torrent and Illumina, and accepts standardized BAM and VCF files. The software integrates prediction information from SIFT, PolyPhen2, LRT, and Mutation Taster, as well as conservation scores from PhyloP, GERP++, and SiPhy. Population frequencies from databases like ExAC, GnomAD, and Exome Variant Server are also included. Additionally, Geneticist Assistant can import data from proprietary custom databases and the COSMIC database of somatic mutations. This extensive compatibility ensures that users have access to a wide range of data for comprehensive analysis.

Features

• Platform Compatibility: Supports data from all leading NGS platforms, including Ion Torrent and Illumina.
• Variant Interpretation: Integrates prediction information from SIFT, PolyPhen2, LRT, Mutation Taster, and more.
• Conservation Scores: Includes data from PhyloP, GERP++, and SiPhy.
• Population Frequencies: Accesses data from ExAC, GnomAD, and Exome Variant Server.
• Custom Databases: Imports information from proprietary databases and COSMIC.
• Variant Filtering: Offers numerous options for filtering variants based on coverage, frequency, balance ratio, and more.
• Sample Comparisons: Facilitates trio and family comparisons, as well as custom PDF report design.
• Quality Metrics: Includes tools for reviewing customizable quality metrics.
• Integration with NextGENe: Can be integrated with NextGENe software for a seamless pipeline from alignment and variant calling to variant interpretation.