Skip to content

Phased Sequencing

Introduction to Phased Sequencing

Historically, whole-genome sequencing generated a single consensus sequence without distinguishing between variants on homologous chromosomes. Phased sequencing, or genome phasing, addresses this limitation by identifying alleles on maternal and paternal chromosomes. This information is often important for understanding gene expression patterns for genetic disease research.

Phased Sequencing in 3 Simple Steps

Identify variant linkage with this seamless workflow solution.

View Recommended Workflow

Benefits of Phased Sequencing

Next-generation sequencing (NGS) enables whole-genome phasing without relying on trio analysis or statistical inference. By identifying haplotype information, phased sequencing can inform studies of complex traits, which are often influenced by interactions among multiple genes and alleles. Phasing can also provide valuable information for genetic disease research, as disruptions to alleles in cis or trans positions on a chromosome can cause some genetic disorders.

Phasing can help researchers to:

  • Analyze compound heterozygotes
  • Measure allele-specific expression
  • Identify variant linkage
What is Phased Sequencing?

Learn about the benefits of genome phasing.

View Video
Sequencing Method Explorer

Use this interactive tool to explore experimental next-generation sequencing (NGS) library preparation methods compiled from the scientific literature.

Find a Method
Sequencing Method Explorer

Human Whole-Genome Phasing Solutions

10x Genomics Chromium Genome Library Prep Kit

Long range information on a genome-wide scale, including variant calling, phasing and extensive characterization of genomic structure using NGS technology.

Learn More
BaseSpace Sequence Hub

The Illumina genomics computing environment, offering specialized apps for NGS data analysis and management.

Learn More
Interested in receiving newsletters, case studies, and information on genomic analysis techniques?

Enter your email address.

Additional Resources

What is Phasing?
What is Phasing?

Learn about what phasing means and how it can benefit genetic disease research.

Accurate Long-Read Sequencing Technology
Accurate Long-Read Sequencing Technology

Illumina technology assembles synthetic long reads from shorter reads to provide more information while maintaining accuracy.