Enlis Genome Research Features

1. State of the art visualization for multiple genomes

The best software tool available for viewing and analyzing the results from many genomes side-by-side

2. Comprehensive variation annotation

SNPs and Indels

Determine dbSNP identifier or label as novel - Population frequency - Known damaging mutations*

Assess gene impact

CDS - UTR - Intron - Splice site - 5' promoter region

CDS → Determine protein-coding changes

Missense - Nonsense - Frameshift - Inframe ins/del - Misstart - Nonstop - Splice disrupt - Synonymous e.g. "BRCA1 P-871-L"

Copy number variation (CNV)

Use read depth to analyze regions of copy number variation (gain and loss)

Structural variation (SV)*

Large deletions - Insertions - Inversions - Gene fusions

Call coverage and no calls

Calculate call coverage at the gene and protein coding level - Identify and flag regions of the genome that were not sequenced (no calls)

Metadata

Genome-wide metadata - Gene metadata - Sequence and assembly metadata -- Helps to quickly identify biologically relevant features

3. View and mesh many types and sources of DNA sequence data

Whole Genome - Exome - SNP chip

4. Simple genome importation

Import and annotate your data with a simple point-and-click interface:

Supported data types:

VCF - Variant Call Format
Illumina CASAVA results
Complete Genomics
GVF - Genome Variation Format
DNANexus variation download
Life diBayes results*
SAM/BAM - Sequence Alignment Map*
Affymetrix Human 6.0 SNP genotype*

5. Easy file handling

All relevant variation data on a single genome is assembled into an easy to handle .genome file
Video - Learn more about .genome files

6. Genome difference tool

Breathtaking speed in finding the differences between two genomes. Extremely useful for cancer/normal genome comparison from one individual, finding differences between disease and control genomes in different individuals, and comparing family members.

Video - Learn more about our genome difference tool

7. Fast multi-genome variation filter

Highly optimized variation searching with a point-and-click interface. Filter millions of variations down to a handful of highly relevant variations in a matter of seconds.

Search tens or hundreds of genomes at the same time and remove unwanted variations by comparing to a control set of genomes.

Example Query: Find all the novel deletions in the UTR of genes involved in Cholesterol Metabolism
6 clicks, results in 10 seconds

8. Gene category and pathway analysis

Get a broad overview of the types of variation found in the currenly loaded genomes for any particular gene category or pathway.

Example: In the "Sleep Regulation" category, 6 out of the 56 loaded genomes have a structural variation in the gene GRIN2A.

9. Genome updater tool*

New information is being discovered all the time - our genome update tool will make sure that your genomic data stays up to date with the latest annotations.

10. Works everywhere

Runs on Windows, Mac, and Linux. Low computational requirements - runs on commodity hardware.

* Feature coming soon