MLLi:db - Using technology to shape the future



Variants associated with different hematological diseases

MLL Pathogenicity Predictor

1,018 Pathogenic
199  Benign
235 Uncertain

MLLi:db Variants with annotations in public databases

Variant Types

18.67%     Silent
40.74%   Missense
13.46%    Frameshift
18.95%    Nonsense
2.5%       In-frame
5.69%    Splice site

MLLi:db Benefits

Variant classification:
Each variant in MLLi:db is labelled according to a 3-tier classification system: "Mutated", "Wild type", "Variant of unknown significance". All variants available on MLLi:db were observed in at least five different individuals and were classified by two scientists independently, using database information based on routine diagnostics NGS data and taking into account information from research publications."
MLL Predictor:
MLL Predictor (automated consensus classification based on 14 sources)
Public databases:
In addition to the lab's own data we provide convenient access to the following sources for many variants: COSMIC, dbSNP, gnomAD, ClinVar, dbNSFP.
Manual curation:
Resolve potential discrepancies from other databases.
Notification:
Notification system, if classification changes over time.
Annotation of genetic variants using a VCF file:
Optimize variant querying by uploading a VCF file containing the complete batch of variants detected in a sample and receive classification of those variants with matches in MLLi:db.
An interactive search interface:
MLLi:db offers the flexibility to employ search, sort, filter and data export functions, all by a simple click.

MLLi:db Features

Number of samples
# Unique samples
189,753
Genes
# Genes for query
103
Variants
# Unique variants
1,452
Query variants
# Quick search


What type of information MLLi:db offers

Allele frequency distribution
Genetic location
Disease entitiy distriubtion
Free account
Type of mutation/variation
Coding effect
Prediction score
Protein change
Frequency of the positive individuals
Variant Packages
Variant interpretation
Quarterly basis update
Result in PDF report

Frequently asked questions

There are three possible ways:

Genomic Coordinate Gene name & cDNA Upload own a VCF File

Yes, all of your demo & purchased variants are stored under purchased history tab in your user profile

MLLi will provide quarterly releases of updated MLLi:db.

MLLi has been tested to work with the latest versions of all major browsers (Internet Explorer, Chrome, Firefox, and Safari) that support HTML5. Previous versions of these browsers from the last two years should also work as expected. However, MLLi does only support Internet Explorer from version 9 upwards, and will show an error message if the version is too old. In that case, please update your browser or ask your administrator for help.

MLLi offers user support to answer questions regarding the (scientific) content of MLLi as well as to solve IT-related issues. You can write your query using Support dialog.

Telephone contact:

T: +49 (0)89 99017-567 (Monday to Friday, 8am to 5pm)

The registration to MLLi is free. Once you have register to MLLi, you get 10 Demo variants in your account.

Demo Report

MLLi:db Team wrote: