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Whats New In GenomeQuest 7.2 NGS
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Revision as of 04:47, January 15, 2012 by Hafez
GenomeQuest 7.2 is full of many new and exciting one-of-a-kind features
- Completely re-written turbo-charged annotation engine! Annotate a whole genome in minutes!
- Brand new gene model produces the most accurate representation of the NCBI gene model - annotates variants in Genes, CDS, Repeats, Splice Sites, Exons, UTR's.
- Re-written and improved mutation protein impact prediction - find impacts like deletions, insertions, frameshift, stops, damaging stops, premature stops, silent, substitutions.
- HGVS Nomenclature compliant output.
- Handles mitochondrial genome specificities
Annotation Data Sources
- HGMD (Human Gene Mutation Database) has been added as an annotation track. †
- The latest dbSNP135 available for Human (hg19)
- The latest dbSNP132 for Mouse (mm9)
- SIFT (hg19) protein impact prediction annotation track added. Predicts whether amino acid substitutions in a protein will have a phenotypic effect.
- Polyphen-2 (hg19) protein impact prediction annotation track added. Predict amino acid substitution on the structure and function of a human protein.
† Subscription required for use.
- The world's most powerful variant enrichment interface
- Interrogate your variant information using 70+ different criteria compiled from the world's genomic knowledge
- Use the filtering panel to focus in on those variants of interest to you.
GenomeQuest Alignment Engine
- World's first algorithm to detect small to medium indels (up to 50 bp) in your sample on a Whole Genome Scale
- Read mapping is now 5x faster! Map a whole human genome equivalent in one hour!
- Native support of BAM files with the ability to export and download
- Advanced Paired End support
- New, more intuitive menu layout
- Redesigned welcome screen that mirrors the new menu layout, showing both recent samples added and recent analyses
- New ability to quickly merge databases to perform operations on pooled samples or combine samples from different sequencing runs.
- New quality chart showing your sample's sequence quality by base
- Support for Ion Torrent data has been added
- You can now import your own reference sequences and genomes to GQ and align your reads against it.
- SAM/BAM import support added, we now support the ability to import your own external mapping results.