Cytogenomics
Introduction to Cytogenomics
Understanding chromosome aberrations through cytogenetic analysis is an integral part of current genomic medicine, playing a role in research into both constitutional disorders and cancer.
At Illumina, we collaborate with industry experts, thought leaders, and customers to develop solutions to meet your evolving research needs. Now you can perform sequencing and high-quality cytogenomic array scanning all on a single platform.
Sequencing and Arrays for Cytogenomics
Next-generation sequencing (NGS) offers detection capabilities that complement arrays. By providing a base-by-base view of the genome, NGS can identify single nucleotide variants (SNV), small structural changes, and balanced translocations, providing researchers with a genome-wide view of chromosomal variation.
NGS can be used to confirm copy number variants detected by arrays. Together, the two methods are ideal for cytogenomic studies across a spectrum of constitutional as well as cancer research applications. Now you can perform both NGS and array scanning on a single system, the NextSeq 550 System.
View NextSeq 550 SystemTraditional molecular cytogenomic methods for assessing chromosomal abnormalities, including FISH and karyotyping, enable genome visualization, but generally at a low resolution. As a result, data from these methods can often be incomplete.1
Cytogenomic microarrays offer a simple, reliable method for assessing chromosomal aberrations at a higher resolution. Illumina offers high-quality microarrays designed to detect chromosome aberrations and provide accurate, reliable cytogenomic data with:
- Thorough coverage
- High detection sensitivity for low-level mosaics
- Simplified workflows easily incorporated into any lab
- Proven assay chemistry for confident results
Featured Cytogenomics Research Stories
Looking for Cancer Clues in the Bloodstream
Targeted NGS can identify myeloid-related genes with greater sensitivity than Sanger sequencing or cytogenetic methods.
Read Interview
Comprehensive Panel for Gene Fusion Detection
Ravindra Kolhe, MD, PhD, discusses using the TruSight RNA Fusion Panel to study gene fusions in cancer.
Read Interview
Cytogenetic Testing Offers Insights into Recurrent Pregnancy Loss
Trilochan Sahoo, MD discusses the benefits of the CytoSNP-850K BeadChip for cytogenetics researchers.
Read InterviewWhy Cytogeneticists Are Using NGS with FISH
NGS can save time and money while enabling you to meet best practices for analyzing samples with unknown abnormalities.
View Infographic
Featured Products
Microarray Kits and Software for Cytogenomics
- Infinium CytoSNP-850K v1.4 BeadChip: This array provides comprehensive coverage of cytogenetically relevant genes for congenital disorders and cancer research.
- BlueFuse Multi Software: This intuitive software analyzes array-based molecular cytogenetic and in vitro fertilization (IVF) data as well as NGS-based IVF data. It offers a clear user interface and scales for the needs of your lab.
From Cytogenetics to Cytogenomics
Learn how to use complementary microarray and NGS technologies for thorough analysis of chromosomal changes with this in-depth introduction to genomic technologies.
Read Introduction
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Additional Resources
Novel Fusions and Pharmacogenomic Targets in Cancer
Learn about the optimization and validation of commercially available clinical NGS assays.
Chromosomal Genetics Studies with Arrays and NGS
Laboratory adopts the newest technologies to analyze chromosomal abnormalities and their connection to disease.
NGS Complements Traditional Cytogenetic Methods
Genomic analysis of tumors provides comprehensive detection of genetic abnormalities.
Cytogenetics Expert Interview
Trilochan Sahoo, MD discusses the benefits of the CytoSNP-850K BeadChip for cytogenetics researchers.
One System for NGS and Arrays
Perform sequencing and high-quality cytogenomic array scanning, all on the NextSeq 550 System.
Transform Your Research with NGS
Find out more about how NGS technology works and what it can do for you.
References
- PROFOUND. Molecular Cytogenetics (FISH, Fluorescent In Situ Hybridization, Array-Based). Rep. no. 271067. N.p.: Global Industry Analysts, 2016. Print.