Our best software yet!  Now announcing the latest version of our flagship Enlis Genome Research software.

Version 1.8 highlights:

  • New Phenotype Explorer toolSearch for keywords that match diseases and traits.  Then, immediately see the specific positions and variations that are associated with that phenotype.  The software comes preloaded with known variations for over 6,000 phenotypes.
  • Major Annotation updates- Allele Frequency data is now based on a diverse population of over 60,000 exomes and around 3,000 whole genomes
    – Added Allele Frequency data for the mitochondria from ~30,000 Genbank sequences
    – Added 20,000 additional variant to phenotype classifications for Clinical Significance
    – Added 951 new gene categories and updated all existing
    – Updated to dbSNP 142
  • Genome Import: VCF filtering during importThere are now options to set a minimum read depth, minimum quality score, or valid Filter field for each variation that is imported from a VCF.
  • Genome wide predicted deleterious scoresAdded genome wide predicted deleterious scores with the DANN algorithm. This algorithm uses a “deep neural network” and a wide variety of biological training data to score every possible single nucleotide variation.  Variations that are predicted deleterious are annotated at 3 different score levels.

Numerous other bugs fixes and features – full release notes can be found here:

Getting started is easy, see our “Getting Started” video here:  http://www.enlis.com/video.html

Sign up for our free trial here: