Investigate the molecular basis of complex disease by using Qiagen Bioinformatics solution and Pyrosequencing methods.

1. Sample to Insight
Investigate the molecular
basis of disease
Quality solutions for complex disease genotyping
Bioinformatics is one of the most important tools for scientists
investigating the molecular basis of complex diseases. Since
structural genomics methods rely heavily on data analysis,
you need reliable software and instruments designed to
seamlessly support each other.
Our experts have developed an analytics and sequencing
workflow using high-quality software, PCR chemistry and
high-throughput instruments for quick and accurate detection
of single nucleotide polymorphisms in genes of interest.
Detect even minor allele variants with our sensitive methods –
gain deeper insight into the molecular basis of disease.

2. 2 Investigate the molecular basis of disease 03/2016
SNP selection with Ingenuity®
Variant Analysis
Quickly sift through millions of variants and identify causal variants based
on known relationships with pathways, genes, biological processes and
diseases. This software combines analytical tools and integrated content
to help you rapidly identify and prioritize variants by drilling down to a
small, targeted subset.
Ingenious gene selection
Want to analyze the genes related to a particular disease and identify
new targets or candidate biomarkers within the context of those
biological systems? Ingenuity Pathway Analysis software is the right
solution for you. It helps to identify key regulators and activity that
explains expression patterns, enabling you to predict downstream effects
on biological processes.
Optimized Pyrosequencing Assay Design
Use flexible PyroMark®
Assay Design Software 2.0 to optimize
Pyrosequencing assay design. With a few clicks, the software designs
PCR and sequencing primers for SNP genotyping to identify causal
variants, allele quantification, and sequence and methylation analysis.
It also enables smooth import of assays into any PyroMark instrument.
SNP selection Gene selection Assay design Amplification Pyrosequencing®

3. Investigate the molecular basis of disease 03/2016 3
Specific and unbiased amplification
Mutation detection, SNP analysis, methylation analysis and sequencing
all rely on highly specific and unbiased amplification of template DNA.
The PyroMark PCR Kit is specifically optimized for Pyrosequencing
analysis, ensuring you have quality results every time. The convenient
master mix of HotStarTaq®
DNA Polymerase and optimized PyroMark
Reaction Buffer makes it the easy-to-use, robust choice.
Pyrosequencing including automated template
preparation
Enjoy full automation even for a large number of assays in a single run:
the PyroMark Q48 Autoprep enables template preparation and analysis
for up to 48 samples in one seamless workflow. Enjoy easier, faster and
more intuitive Pyrosequencing – and double your throughput compared
to the PyroMark Q24 Advanced.
“Advanced” Pyrosequencing
The PyroMark Q48 Autoprep uses optimized PyroMark Q48 Advanced
reagents that provide superior real-time sequence-based detection and
quantification. This system is highly suited for analyzing:
• Any kind of sequence variation
• SNP genotyping and frequency
• Complex mutations
• DNA methylation at multiple CpG or CpN sites
Pyrosequencing is ideally suited for functional studies, even in
investigations of complex diseases. Thanks to the automation possibilities,
it is also excellent for verification and validation of large numbers of
samples from next-generation sequencing and array experiments.
Contact your local QIAGEN representative if you’d like more information
on the applications of Pyrosequencing in the study of diseases.

4. 1101102 03/2016
For up-to-date licensing information and product-specific disclaimers, see the respective QIAGEN kit handbook or user manual. QIAGEN kit handbooks and user
manuals are available at www.qiagen.com or can be requested from QIAGEN Technical Services or your local distributor.
Trademarks: QIAGEN®
, Sample to Insight®
, Ingenuity®
, PyroMark®
, Pyrosequencing®
(QIAGEN Group).
1101102 03/2016 PROM-9493-001 © 2016 QIAGEN, all rights reserved.
www.qiagen.com
Ordering Information
Product Contents Cat. no.
PyroMark Assay Design SW 2.0
Software for convenient design of PCR and
sequencing primers, optimized for Pyrosequencing
analysis
9019077
PyroMark PCR Kit (200)
PyroMark PCR Master Mix (includes HotStarTaq DNA
Polymerase and optimized PyroMark Reaction Buffer)
978703
PyroMark PCR Kit (800)
PyroMark PCR Master Mix (includes HotStarTaq DNA
Polymerase and optimized PyroMark Reaction Buffer)
978705
PyroMark Q48 Autoprep
Instrument, software and pipet for advanced
Pyrosequencing of 48 samples in parallel
9002470
PyroMark Q48 Autoprep Starter Kit
PyroMark Q48 Magnetic Beads (300), PyroMark
Q48 Advanced CpG Reagents (4 x 48), PyroMark
Control Oligo, PyroMark Q48 Discs (50) and
PyroMark Q48 Absorber Strips (100)
974230
IPA Advanced Analytics, 25 Datasets LNUL
For new academic users who have a limited amount
of data to analyze
830011
Ingenuity variant analysis, 1 month
One month access to Ingenuity variant analysis for
new users only
830287
To find out more about our solutions for Pyrosequencing and genotyping, visit qiagen.com/Pyrosequencing