CytoScan™ Assay Automated Workflow Site Preparation Guide—Applied Biosystems™ NIMBUS™ Instrument 5
1Introduction
About CytoScan™ Automated Target Preparation Solution on the
NIMBUS™ Instrument
Cytogenetics research studies are performed to identify structural changes in DNA,
such as copy number changes (CNV), loss of heterozygosity (LOH), and mosaicism.
Individuals typically have two copies of the genome in each of their cells: one inherited
from the mother and one inherited from the father. Chromosomal abnormalities, such
as the ones listed below, are common in several disease states:
•Deletions–When one or both copies of a particular chromosome region are lost.
•Gains–When a chromosome or chromosomal region is duplicated or multiplied.
•Uniparental Disomies (UPDs)–When two copies of a chromosome or chromosomal
region are present, but both have been inherited from a single parent.
Traditional cytogenetics techniques, such as karyotyping and fluorescent in situ
hybridization (FISH) have been used to study chromosomal abnormalities for decades.
However, karyotyping only detects abnormalities at low resolutions (larger than
~5 Mb), and FISH is a more focused and targeted approach without the benefit of
genome-wide analysis. Further, these techniques are limited to only providing copy
number information so that UPDs cannot be identified.
Together, CytoScan™ Arrays and CytoScan™ Assay Automated Workflow, along with
the Command Console and Chromosome Analysis Suite software, enable you to
perform high-resolution genome-wide DNA copy number analysis. The Thermo
Fisher Scientific solution for cytogenetics research also provides genotyping
information with over 750,000 SNPs, enabling detection of loss of heterozygosity
(LOH), which can be used to detect UPDs. The combined high resolution DNA copy
number data and the ability to detect gains, losses, mosaicism, and LOH on a single
array makes the CytoScan™ Solution a great tool for next generation cytogenetics
research studies.
IMPORTANT! The CytoScan™ Automated Target Preparation Assay protocol is
optimized for processing from 25 or 49 samples at a time using the Applied
Biosystems™ NIMBUS™ Target Preparation Instrument to obtain whole genome copy
number and SNP information from Applied Biosystems™ CytoScan™ Arrays. Only the
post-PCR steps from PCR purification to adding hybridization master mix are
automated. This protocol is not intended for genome-wide association studies.