Sequencing large genomes (> 5 Mb) can provide valuable information for disease and population-level studies. Researchers often use large whole-genome sequencing to analyze tumors, investigate causes of disease, select plants and animals for agricultural breeding programs, and identify common genetic variations among populations.
Analyzing the whole genome using next-generation sequencing (NGS) delivers a base-by-base view of all genomic alterations, including single nucleotide variants (SNV), insertions and deletions, copy number changes, and structural variations. Paired-end whole-genome sequencing involves sequencing both ends of a DNA fragment, which increases the likelihood of alignment to the reference and facilitates detection of genomic rearrangements, repetitive sequences, and gene fusions.
Illumina is providing sequencing for a UK-wide study led by Genomics England, designed to compare the genomes of severely and mildly ill COVID-19 patients.
Read ArticleWGS allows researchers to examine nucleosome patterns and infer the gene expression status of cancer driver genes in cell-free DNA.
Read InterviewResearchers at the Okinawa Institute of Science and Technology use de novo WGS and other NGS methods to identify, characterize, and catalog the diversity of species on land and in the sea.
Read InterviewHighly accurate, high-performance full workflow solution for comprehensive human WGS with long-read data from NovaSeq platforms.
A fast, integrated workflow for a wide range of applications, from human whole-genome sequencing to amplicons, plasmids, and microbial species.
Scalable throughput and flexibility for virtually any genome, sequencing method, and scale of project.
Extraordinary throughput and accuracy to perform data-intensive applications at production scale.
Accurate, ultra-rapid analysis of sequencing data from whole genomes, with apps for analysis of germline and somatic datasets. Available on-premise or in BaseSpace Sequence Hub.
The DRAGEN Illumina Complete Long Read WGS app generates the most accurate and comprehensive whole human genome data using DRAGEN and Illumina Complete Long Reads.
Illumina sequencing by synthesis (SBS) chemistry is the most widely adopted NGS technology, generating approximately 90% of global sequencing data.*
In addition to our industry-leading data quality, Illumina offers integrated workflows that simplify the entire process, from library preparation to data analysis.
Click on the below to view products for each workflow step.
A fast, integrated workflow for a wide range of applications, from human whole-genome sequencing to amplicons, plasmids, and microbial species.
Illumina DNA PCR-Free PrepA high-performing, fast, and integrated workflow for sensitive applications such as human whole-genome sequencing.
Efficient library preparation from samples with limited available DNA, delivering high coverage quality and reduced bias.
Library Prep Kit SelectorDetermine the best kit for your needs.
Illumina Complete Long Read Prep, HumanDesigned for human whole-genome sequencing (WGS) by enabling short and long reads from a single platform.
Groundbreaking benchtop sequencers allow you to explore new discoveries across a variety of current and emerging applications.
NovaSeq 6000 SystemScalable throughput and flexibility for virtually any genome, sequencing method, and scale of project.
Compare sequencing platforms and identify the best system for your lab and applications.
Sequencing Reagents and Flow CellsFind kits that include sequencing reagents, flow cells, and/or buffers tailored to each Illumina sequencing system.
The Illumina DRAGEN (Dynamic Read Analysis for GENomics) Bio-IT Platform provides ultra-rapid secondary analysis of NGS data.
BaseSpace Sequence HubThe Illumina genomics computing environment for NGS data analysis and management.
BaseSpace Whole-Genome Sequencing AppQuickly extracts biological information from whole-genome sequences, using Isaac alignment and variant calling.
BaseSpace Tumor-Normal AppEnables researchers to detect somatic variants from a tumor and matched normal sample pair.
Associates single gene or list of genes with annotation data for pathways, diseases, tissues, and small molecules.
BaseSpace Correlation EngineA growing library of curated genomic data to support researchers in identifying disease mechanisms, drug targets, and biomarkers.
BaseSpace Variant InterpreterLeverages leading annotation databases and a powerful filtering interface to identify disease-associated variants rapidly.
Reagent kits for the NovaSeq 6000 System are available in multiple flow cell configurations to support a broad range of applications. SP and S1 are ideal for small batch sizes or in situations where rapid turnaround time is required. S2 is a quick, powerful, and cost-effective option for high-throughput applications. S4 offers ultra-high throughput sequencing across a wide range of sequencing methods.
View KitsLong-read sequencing enables the sequencing of much longer DNA fragments than traditional short-read sequencing methods.
Researchers can utilize WGS and other methods to identify genetic variants associated with complex diseases and characterize disease mechanisms.
Whole-genome sequencing of tumor and matched normal tissue samples provides a comprehensive view of the unique mutations in cancer, informing studies of oncogenes and other risk factors.
WGS can identify single nucleotide variants and copy number variations associated with diseases. Identifying these causal variants can help researchers characterize disease mechanisms.
Whole-genome sequencing of plants and animals is an efficient approach for discovering genes, SNPs, and structural variants. This information can improve breeding and selection in agriculture.
Previously a challenging application, human whole-genome sequencing has never been simpler. It offers the most detailed view into our genetic code.
Human WGS on the NovaSeq 6000 System
See our best practices for generating high-quality data from human whole-genome sequencing on the NovaSeq 6000 System.
Sequencing to Understand Age-Related Diseases
Human Longevity, Inc. aims to address challenges related to aging and disease through the power of population genomics.
Paired-end sequencing facilitates detection of genomic rearrangements and repetitive sequence elements.
Modern Breeding Programs for Sunflower Farming
The sunflower industry adopts genomics tools to better inform breeding decisions and improve disease resistance.
Feline Social Media Star Gets Sequenced
Researchers crowdfunded the genome sequencing of Lil Bub to uncover the genetic causes of the cat's rare diseases.
NGS to Study Genetics of Brain Development
Researchers apply functional genomic methods to identify the role of gene variants in intellectual disability.
Shared Vision for the Power of Human WGS
Genomics leaders share their perspective on the impact of high-throughput and population sequencing in clinical research.
*Data calculations on file. Illumina, Inc., 2015