Efficient...Saves Time &
Resources * Controls...Real-time Administration
& Reporting
* For...Disease Panels and
Whole Exome Sequencing data * Compatible...with
data from all NGS Systems
Developed in collaboration with the
Laboratory Medicine, Information Technology
and Health Science Research departments
of Mayo Clinic, Geneticist Assistant
NGS Interpretative Workbench is a
unique tool for the management, control,
visualization, functional interpretation
and historical knowledge base of next
generation sequencing Whole Exome
data or targeted at specific genes
for the purpose of identifying potentially
pathogenic variants associated with
specific conditions such as hereditary
colon cancer and others.
Geneticist Assistant is compatible
with data processed from all leading
next generation sequencing platforms
including Ion Torrent, Illumina and
Roche platforms. The program accepts
standardized BAM and VCF files, and
includes information from the following
sources:
Functional Prediction information:
SIFT, PolyPhen2, LRT, Mutation Taster,
FATHMM, CADD & Mutation Assessor
Disease association:
ClinVar, OMIM & COSMIC
Conservation scores:
PhyloP, GERP++, phastCons & SiPhy
Population frequencies:
1000 Genomes and Exome Variant Server
Additionally, information from proprietary
databases such as Alamut and
LOVD are easily accessible
through embedded links. Information
from other publicly available data
bases are easily imported into the
workbench.
The new administration function
provides a real-time tracking of
current statuses; historical information;
automated email notifications
within a completely customizable
work flow built to model
your actual activities.
Unique tools include CAP
Validation Assistance, automated
.BED file builder which automatically
highlights areas of clinical significance,
Positive Control Verification,
and in conjunction with NextGENe software
can form a completely automated
informatics pipeline.
Webinars
The benefits of Geneticist Assistant
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Submitting and Reviewing Data (View)
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