はじめに：CNV解析
コピー数多型（CNV）とは、1つ以上の遺伝子のコピー数が異常になるゲノムの変化をいいます。重複、欠失、転座、逆位などの構造ゲノム再編がCNVを引き起こす場合があります。
一塩基多型（SNP）のように、疾患感受性との関連が指摘されるCNVもあります。イルミナはさまざまなアレイおよび次世代シーケンス（NGS）ソリューションを提供して、高解像度なコピー数解析を実現します。
Array-Based CNV Analysis
Genome-wide genotyping arrays are commonly used to detect genetic variants, including CNVs that contribute to diseases and phenotypes. Array-based approaches for copy number analysis offer reliable, efficient methods for large-scale analysis.
Researchers can process multiple samples on a single microarray for broad surveys of genomic structural variation, and accurately profile chromosomal aberrations such as amplifications, deletions, rearrangements, and copy-neutral loss of heterozygosity.
CNV Array Products
Illumina offers both human and non-human genotyping arrays for CNV analysis. Illumina scientists strategically select the markers on the arrays to provide maximum genome coverage for optimal copy number analysis.
Cytogenomic research arrays
Arrays for cytogenomic research, which are specifically validated for CNV analysis as part of the manufacturing process.
Learn MoreHuman genotyping arrays
Unbiased, non-targeted approach for human variant detection, providing high coverage across the human genome.
Learn MoreNon-human genotyping arrays
Comprehensive suite of array-based kits for genotyping non-human species such as crops, livestock, and model organisms.
Learn MoreCustom genotyping arrays
Design custom or semi-custom arrays for any species, with convenient online tools and Illumina expert assistance.
Learn MoreCopy Number Analysis with NGS
While efficient for large CNV detection, genotyping arrays are less sensitive for detecting CNVs smaller than 50 kilobases. By providing a base-by-base view of the genome, NGS detects small or novel copy number variants that arrays often miss.
NGS can also map the exact location of a CNV. The high resolution of sequencing complements the high throughput of arrays, enabling a comprehensive view of the genome.
Featured NGS Products and Software for CNV Analysis
TruSeq PCR-Free Library Prep Kit
Identify the greatest number of variants and sequence challenging regions.
View ProductTruSeq Nano Library Prep Kit
Efficiently interrogate samples with limited available DNA, with high coverage quality and reduced bias.
View ProductBaseSpace Whole-Genome Sequencing App
Analyze whole-genome sequencing data using fast, accurate Isaac algorithms for alignment and calling of variants, including CNVs.
View AppDRAGEN Bio-IT Platform for Copy Number Variation Analysis
The DRAGEN Bio-IT Platform provides accurate, ultra-rapid copy number variation analysis for broad surveys of genomic structurial variation.
Learn MoreStudying Downstream Effects of CNVs
Copy number variation often alters gene expression. Targeted RNA sequencing (RNA-Seq) is an unbiased approach for analyzing and quantifying transcripts of interest. RNA-Seq can capture subtle gene expression changes, measure allele-specific expression, and detect fusion genes. By characterizing the downstream effects of variants, researchers can better understand the molecular mechanisms of disease. Learn more about targeted RNA-Seq.
NGS Shows CNV Impact on Gene Expression
Researchers use targeted RNA-Seq to uncover how a CNV linked to schizophrenia affects gene expression in the brain.
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細胞遺伝学
イルミナでは、染色体異常の検出用にデザインされた業界をリードする染色体マイクロアレイにより、高精度で信頼性の高い細胞ゲノム学データをご提供します。NGSではアレイを補完する検出を行います。この2つの手法はともに、一連の生殖医学、遺伝医学のアプリケーションに最適です。
細胞遺伝学 >>
がん染色体異常
シーケンスとアレイに基づいたテクノロジーは、遺伝子融合、染色体再編、コピー数変異などのがんの染色体異常を同定する補完的なアプローチを提供しています。
がん染色体異常 >>
疾患の原因となる変異の発見
アレイおよびNGSジェノタイピングでは、複雑な疾患および特性に関連して、CNVなどの疾患の原因となる変異を同定することができます。これらの標的遺伝子をさらに研究することは、疾患機序の特性評価の手助けとなります。
疾患原因変異の発見 >>
着床前遺伝子診断
着床前遺伝子診断（PGD）により、遺伝性疾患に罹患する可能性のある胚をIVFサイクルの着床前に判断することができます。イルミナは、単一遺伝子疾患およびバランスのとれた染色体転座のPGDを迅速に行うためのソリューションを提供します。
PGD >>
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Additional Resources
System for NGS and Cytogenomic Arrays
Perform sequencing and high-quality cytogenomic array scanning all on a single platform, the NextSeq 550 System.
Chromosomal Genetics Studies
Researchers adopt NGS and array technologies to analyze chromosomal abnormalities and their connection to disease.
CNV Array Data Analysis Training
Learn how to analyze CNV data from Infinium genotyping arrays using GenomeStudio Software.
