We are excited to announce a new version of Enlis Genome Research!  Our customers are having fantastic success in using our software to go quickly from data to discovery.

 

Version 1.7 highlights:
– New Clinical Variation Annotations
This release includes over 120,000 variant to phenotype classifications.  Built-in filters allow you to quickly identify what is already known about the genomes you are studying.
– New Citation Annotations
Publications that support a variant to phenotype classification are listed on the position pages.  Link to Pubmed, or if the associated PDF is freely available, link directly to the PDF.
– New Homozygous Regions Detector tool
Find regions of the genome with “runs” of consecutive homozygous variants.  For rare disease analysis, these regions may indicate a consanguineous union, and provide a starting point for finding recessive disease.  In tumor samples, these regions may indicate loss of heterozygosity.
– Genome Import: Significant speed improvements
Import of VCF, Complete Genomics data, and other variation files is 30% – 600% faster depending on import size.
Numerous other bugs fixes and features – full release notes can be found here: http://files.enlisgenomics.com/ReleaseNotes.pdf
Getting started is easy, see our new “Getting Started” video here: http://www.enlis.com/video.html